psui3905/ncbi_genes_summary huggingface dataset:
SNRPA, Official Symbol SNRPAprovided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide Aprovided by HGNC Primary source HGNC:HGNC:11151 See related Ensembl:ENSG00000077312 MIM:182285; AllianceGenome:HGNC:11151 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as U1A; Mud1; U1-A Summary The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010] Expression Ubiquitous expression in spleen (RPKM 22.2), lymph node (RPKM 20.2) and 25 other tissues See more Orthologs mouse all
SNRPA1, Official Symbol SNRPA1provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide A'provided by HGNC Primary source HGNC:HGNC:11152 See related Ensembl:ENSG00000131876 MIM:603521; AllianceGenome:HGNC:11152 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Lea1; U2A' Summary Enables RNA binding activity. Involved in mRNA splicing, via spliceosome and spermatogenesis. Located in nuclear speck. Part of U2-type catalytic step 2 spliceosome and U2-type precatalytic spliceosome. Implicated in connective tissue disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 26.0), testis (RPKM 22.8) and 25 other tissues See more Orthologs mouse all
SNRPB, Official Symbol SNRPBprovided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptides B and B1provided by HGNC Primary source HGNC:HGNC:11153 See related Ensembl:ENSG00000125835 MIM:182282; AllianceGenome:HGNC:11153 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as COD; CCMS; SNRPB1; SmB/B'; Sm-B/B'; snRNP-B; SmB/SmB' Summary The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 101.8), lymph node (RPKM 67.1) and 25 other tissues See more Orthologs mouse all
SNRPB2, Official Symbol SNRPB2provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide B2provided by HGNC Primary source HGNC:HGNC:11155 See related Ensembl:ENSG00000125870 MIM:603520; AllianceGenome:HGNC:11155 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Msl1; U2B'' Summary The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 22.1), appendix (RPKM 20.1) and 25 other tissues See more Orthologs mouse all
SNRPBP1, Official Symbol SNRPBP1provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptides B and B1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:38665 See related Ensembl:ENSG00000223550 AllianceGenome:HGNC:38665 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPC, Official Symbol SNRPCprovided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide Cprovided by HGNC Primary source HGNC:HGNC:11157 See related Ensembl:ENSG00000124562 MIM:603522; AllianceGenome:HGNC:11157 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as U1C; Yhc1 Summary This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in testis (RPKM 34.9), bone marrow (RPKM 32.7) and 25 other tissues See more Orthologs mouse all
SNRPCP11, Official Symbol SNRPCP11provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide C pseudogene 11provided by HGNC Primary source HGNC:HGNC:49826 See related Ensembl:ENSG00000241346 AllianceGenome:HGNC:49826 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPCP14, Official Symbol SNRPCP14provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide C pseudogene 14provided by HGNC Primary source HGNC:HGNC:49829 See related Ensembl:ENSG00000254805 AllianceGenome:HGNC:49829 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPCP15, Official Symbol SNRPCP15provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide C pseudogene 15provided by HGNC Primary source HGNC:HGNC:49830 See related Ensembl:ENSG00000230106 AllianceGenome:HGNC:49830 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPCP16, Official Symbol SNRPCP16provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide C pseudogene 16provided by HGNC Primary source HGNC:HGNC:49831 See related Ensembl:ENSG00000250342 AllianceGenome:HGNC:49831 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPCP19, Official Symbol SNRPCP19provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide C pseudogene 19provided by HGNC Primary source HGNC:HGNC:49834 See related AllianceGenome:HGNC:49834 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPCP4, Official Symbol SNRPCP4provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide C pseudogene 4provided by HGNC Primary source HGNC:HGNC:49819 See related AllianceGenome:HGNC:49819 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPCP8, Official Symbol SNRPCP8provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide C pseudogene 8provided by HGNC Primary source HGNC:HGNC:49823 See related Ensembl:ENSG00000250580 AllianceGenome:HGNC:49823 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPCP9, Official Symbol SNRPCP9provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide C pseudogene 9provided by HGNC Primary source HGNC:HGNC:49824 See related Ensembl:ENSG00000231812 AllianceGenome:HGNC:49824 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPD1, Official Symbol SNRPD1provided by HGNC Official Full Name small nuclear ribonucleoprotein D1 polypeptideprovided by HGNC Primary source HGNC:HGNC:11158 See related Ensembl:ENSG00000167088 MIM:601063; AllianceGenome:HGNC:11158 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMD1; SNRPD; Sm-D1; HsT2456 Summary This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] Expression Ubiquitous expression in lymph node (RPKM 17.9), bone marrow (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
SNRPD2, Official Symbol SNRPD2provided by HGNC Official Full Name small nuclear ribonucleoprotein D2 polypeptideprovided by HGNC Primary source HGNC:HGNC:11159 See related Ensembl:ENSG00000125743 MIM:601061; AllianceGenome:HGNC:11159 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMD2; Sm-D2; SNRPD1 Summary The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Expression Ubiquitous expression in ovary (RPKM 85.9), lymph node (RPKM 73.9) and 25 other tissues See more Orthologs mouse all
SNRPD2P1, Official Symbol SNRPD2P1provided by HGNC Official Full Name small nuclear ribonucleoprotein D2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31459 See related AllianceGenome:HGNC:31459 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SNRPD2P; bA478K7.1
SNRPD3, Official Symbol SNRPD3provided by HGNC Official Full Name small nuclear ribonucleoprotein D3 polypeptideprovided by HGNC Primary source HGNC:HGNC:11160 See related Ensembl:ENSG00000100028 MIM:601062; AllianceGenome:HGNC:11160 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMD3; Sm-D3 Summary This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in thyroid (RPKM 22.3), prostate (RPKM 19.1) and 25 other tissues See more Orthologs mouse all
SNRPE, Official Symbol SNRPEprovided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide Eprovided by HGNC Primary source HGNC:HGNC:11161 See related Ensembl:ENSG00000182004 MIM:128260; AllianceGenome:HGNC:11161 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SME; Sm-E; HYPT11; snRNP-E Summary The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016] Expression Ubiquitous expression in colon (RPKM 16.8), ovary (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
SNRPEP8, Official Symbol SNRPEP8provided by HGNC Official Full Name SNRPE pseudogene 8provided by HGNC Primary source HGNC:HGNC:43573 See related Ensembl:ENSG00000231399 AllianceGenome:HGNC:43573 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPEP9, Official Symbol SNRPEP9provided by HGNC Official Full Name SNRPE pseudogene 9provided by HGNC Primary source HGNC:HGNC:43574 See related Ensembl:ENSG00000214124 AllianceGenome:HGNC:43574 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPF, Official Symbol SNRPFprovided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide Fprovided by HGNC Primary source HGNC:HGNC:11162 See related Ensembl:ENSG00000139343 MIM:603541; AllianceGenome:HGNC:11162 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMF; Sm-F; snRNP-F Summary Enables RNA binding activity. Involved in spliceosomal snRNP assembly. Located in cytosol and nucleus. Part of several cellular components, including methylosome; nucleus; and pICln-Sm protein complex. Biomarker of nasopharynx carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 26.2), colon (RPKM 24.6) and 25 other tissues See more Orthologs mouse all
SNRPFP2, Official Symbol SNRPFP2provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide F pseudogene 2provided by HGNC Primary source HGNC:HGNC:39665 See related AllianceGenome:HGNC:39665 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPFP3, Official Symbol SNRPFP3provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide F pseudogene 3provided by HGNC Primary source HGNC:HGNC:39666 See related Ensembl:ENSG00000225501 AllianceGenome:HGNC:39666 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPFP4, Official Symbol SNRPFP4provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide F pseudogene 4provided by HGNC Primary source HGNC:HGNC:39667 See related Ensembl:ENSG00000235627 AllianceGenome:HGNC:39667 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPG, Official Symbol SNRPGprovided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide Gprovided by HGNC Primary source HGNC:HGNC:11163 See related Ensembl:ENSG00000143977 MIM:603542; AllianceGenome:HGNC:11163 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMG; Sm-G Summary The protein encoded by this gene is a component of the U1, U2, U4, and U5 small nuclear ribonucleoprotein complexes, precursors of the spliceosome. The encoded protein may also be a part of the U7 small nuclear ribonucleoprotein complex, which participates in the processing of the 3' end of histone transcripts. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in colon (RPKM 14.7), appendix (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
SNRPGP1, Official Symbol SNRPGP1provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 1provided by HGNC Primary source HGNC:HGNC:20033 See related AllianceGenome:HGNC:20033 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SNRPGP
SNRPGP11, Official Symbol SNRPGP11provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 11provided by HGNC Primary source HGNC:HGNC:39330 See related AllianceGenome:HGNC:39330 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPGP12, Official Symbol SNRPGP12provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 12provided by HGNC Primary source HGNC:HGNC:39331 See related Ensembl:ENSG00000226734 AllianceGenome:HGNC:39331 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPGP14, Official Symbol SNRPGP14provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 14provided by HGNC Primary source HGNC:HGNC:42039 See related Ensembl:ENSG00000236577 AllianceGenome:HGNC:42039 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPGP15, Official Symbol SNRPGP15provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 15provided by HGNC Primary source HGNC:HGNC:49371 See related AllianceGenome:HGNC:49371 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to contribute to RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be part of SMN-Sm protein complex and nucleus. Predicted to be active in P granule. [provided by Alliance of Genome Resources, Apr 2022]
SNRPGP16, Official Symbol SNRPGP16provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 16provided by HGNC Primary source HGNC:HGNC:49373 See related Ensembl:ENSG00000255287 AllianceGenome:HGNC:49373 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPGP18, Official Symbol SNRPGP18provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 18provided by HGNC Primary source HGNC:HGNC:49374 See related Ensembl:ENSG00000257979 AllianceGenome:HGNC:49374 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPGP19, Official Symbol SNRPGP19provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 19provided by HGNC Primary source HGNC:HGNC:49375 See related Ensembl:ENSG00000270526 AllianceGenome:HGNC:49375 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPGP20, Official Symbol SNRPGP20provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 20provided by HGNC Primary source HGNC:HGNC:49376 See related Ensembl:ENSG00000271496 AllianceGenome:HGNC:49376 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPGP6, Official Symbol SNRPGP6provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 6provided by HGNC Primary source HGNC:HGNC:39325 See related AllianceGenome:HGNC:39325 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPGP8, Official Symbol SNRPGP8provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 8provided by HGNC Primary source HGNC:HGNC:39327 See related Ensembl:ENSG00000226718 AllianceGenome:HGNC:39327 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPGP9, Official Symbol SNRPGP9provided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide G pseudogene 9provided by HGNC Primary source HGNC:HGNC:39328 See related AllianceGenome:HGNC:39328 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNRPN, Official Symbol SNRPNprovided by HGNC Official Full Name small nuclear ribonucleoprotein polypeptide Nprovided by HGNC Primary source HGNC:HGNC:11164 See related Ensembl:ENSG00000128739 MIM:182279; AllianceGenome:HGNC:11164 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMN; PWCR; SM-D; sm-N; RT-LI; HCERN3; SNRNP-N; SNURF-SNRPN Summary This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017] Orthologs mouse all
SNTA1, Official Symbol SNTA1provided by HGNC Official Full Name syntrophin alpha 1provided by HGNC Primary source HGNC:HGNC:11167 See related Ensembl:ENSG00000101400 MIM:601017; AllianceGenome:HGNC:11167 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SNT1; LQT12; TACIP1; dJ1187J4.5 Summary Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013] Expression Broad expression in heart (RPKM 50.7), thyroid (RPKM 41.8) and 19 other tissues See more Orthologs mouse all
SNTB1, Official Symbol SNTB1provided by HGNC Official Full Name syntrophin beta 1provided by HGNC Primary source HGNC:HGNC:11168 See related Ensembl:ENSG00000172164 MIM:600026; AllianceGenome:HGNC:11168 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as A1B; SNT2; BSYN2; 59-DAP; DAPA1B; SNT2B1; TIP-43 Summary Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 41.8), adrenal (RPKM 32.7) and 22 other tissues See more Orthologs mouse all
SNTB2, Official Symbol SNTB2provided by HGNC Official Full Name syntrophin beta 2provided by HGNC Primary source HGNC:HGNC:11169 See related Ensembl:ENSG00000168807 MIM:600027; AllianceGenome:HGNC:11169 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SNT3; SNTL; SNT2B2; EST25263; D16S2531E Summary Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 7.0), thyroid (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
SNTG1, Official Symbol SNTG1provided by HGNC Official Full Name syntrophin gamma 1provided by HGNC Primary source HGNC:HGNC:13740 See related Ensembl:ENSG00000147481 MIM:608714; AllianceGenome:HGNC:13740 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SYN4; G1SYN Summary The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016] Expression Biased expression in brain (RPKM 1.6), spleen (RPKM 0.7) and 2 other tissues See more Orthologs mouse all
SNTG2, Official Symbol SNTG2provided by HGNC Official Full Name syntrophin gamma 2provided by HGNC Primary source HGNC:HGNC:13741 See related Ensembl:ENSG00000172554 MIM:608715; AllianceGenome:HGNC:13741 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SYN5; G2SYN Summary This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
SNTG2-AS1, Official Symbol SNTG2-AS1provided by HGNC Official Full Name SNTG2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54058 See related AllianceGenome:HGNC:54058 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in endometrium (RPKM 5.5), testis (RPKM 5.1) and 6 other tissues See more
SNTN, Official Symbol SNTNprovided by HGNC Official Full Name sentan, cilia apical structure proteinprovided by HGNC Primary source HGNC:HGNC:33706 See related Ensembl:ENSG00000188817 MIM:617832; AllianceGenome:HGNC:33706 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as S100AL; sentan; S100A1L Summary Predicted to enable calcium ion binding activity and calcium-dependent protein binding activity. Predicted to be located in cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward lung (RPKM 7.7) See more Orthologs mouse all
SNU13, Official Symbol SNU13provided by HGNC Official Full Name small nuclear ribonucleoprotein 13provided by HGNC Primary source HGNC:HGNC:7819 See related Ensembl:ENSG00000100138 MIM:601304; AllianceGenome:HGNC:7819 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FA1; FA-1; NHPX; 15.5K; OTK27; SSFA1; NHP2L1; SPAG12; SNRNP15-5 Summary Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 32.6), adrenal (RPKM 31.2) and 25 other tissues See more Orthologs mouse all
SNUPN, Official Symbol SNUPNprovided by HGNC Official Full Name snurportin 1provided by HGNC Primary source HGNC:HGNC:14245 See related Ensembl:ENSG00000169371 MIM:607902; AllianceGenome:HGNC:14245 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KPNBL; RNUT1; Snurportin1 Summary The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 12.3), ovary (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
SNURF, Official Symbol SNURFprovided by HGNC Official Full Name SNRPN upstream open reading frameprovided by HGNC Primary source HGNC:HGNC:11171 See related Ensembl:ENSG00000273173 AllianceGenome:HGNC:11171 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017] Orthologs mouse all
SNW1, Official Symbol SNW1provided by HGNC Official Full Name SNW domain containing 1provided by HGNC Primary source HGNC:HGNC:16696 See related Ensembl:ENSG00000100603 MIM:603055; AllianceGenome:HGNC:16696 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Bx42; SKIP; FUN20; Prp45; SKIIP; SKIP1; PRPF45; NCOA-62 Summary This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in bone marrow (RPKM 34.9), testis (RPKM 33.4) and 25 other tissues See more Orthologs mouse all
SNX1, Official Symbol SNX1provided by HGNC Official Full Name sorting nexin 1provided by HGNC Primary source HGNC:HGNC:11172 See related Ensembl:ENSG00000028528 MIM:601272; AllianceGenome:HGNC:11172 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VPS5; HsT17379 Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 29.5), fat (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
SNX10, Official Symbol SNX10provided by HGNC Official Full Name sorting nexin 10provided by HGNC Primary source HGNC:HGNC:14974 See related Ensembl:ENSG00000086300 MIM:614780; AllianceGenome:HGNC:14974 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OPTB8 Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] Expression Broad expression in brain (RPKM 20.5), appendix (RPKM 13.4) and 19 other tissues See more Orthologs mouse all
SNX11, Official Symbol SNX11provided by HGNC Official Full Name sorting nexin 11provided by HGNC Primary source HGNC:HGNC:14975 See related Ensembl:ENSG00000002919 MIM:614906; AllianceGenome:HGNC:14975 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 9.8), spleen (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
SNX12, Official Symbol SNX12provided by HGNC Official Full Name sorting nexin 12provided by HGNC Primary source HGNC:HGNC:14976 See related Ensembl:ENSG00000147164 MIM:300883; AllianceGenome:HGNC:14976 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. A similar protein in mouse may be involved in regulating the neurite outgrowth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in kidney (RPKM 19.5), thyroid (RPKM 17.8) and 25 other tissues See more Orthologs mouse all
SNX13, Official Symbol SNX13provided by HGNC Official Full Name sorting nexin 13provided by HGNC Primary source HGNC:HGNC:21335 See related Ensembl:ENSG00000071189 MIM:606589; AllianceGenome:HGNC:21335 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RGS-PX1 Summary This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 8.8), testis (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
SNX14, Official Symbol SNX14provided by HGNC Official Full Name sorting nexin 14provided by HGNC Primary source HGNC:HGNC:14977 See related Ensembl:ENSG00000135317 MIM:616105; AllianceGenome:HGNC:14977 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCAR20; RGS-PX2 Summary This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in testis (RPKM 30.0), thyroid (RPKM 16.2) and 25 other tissues See more Orthologs mouse all
SNX15, Official Symbol SNX15provided by HGNC Official Full Name sorting nexin 15provided by HGNC Primary source HGNC:HGNC:14978 See related Ensembl:ENSG00000110025 MIM:605964; AllianceGenome:HGNC:14978 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSAF001435 Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in fat (RPKM 9.4), kidney (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
SNX16, Official Symbol SNX16provided by HGNC Official Full Name sorting nexin 16provided by HGNC Primary source HGNC:HGNC:14980 See related Ensembl:ENSG00000104497 MIM:614903; AllianceGenome:HGNC:14980 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The protein encoded by this gene associates with late endosome membranes as is involved in tubule formation, cholesterol transport, and transport of tetraspanin CD81. The encoded protein also inhibits cell migration and tumorigenesis. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in testis (RPKM 6.1), esophagus (RPKM 5.5) and 24 other tissues See more Orthologs mouse all
SNX17, Official Symbol SNX17provided by HGNC Official Full Name sorting nexin 17provided by HGNC Primary source HGNC:HGNC:14979 See related Ensembl:ENSG00000115234 MIM:605963; AllianceGenome:HGNC:14979 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012] Expression Ubiquitous expression in spleen (RPKM 29.0), lymph node (RPKM 26.3) and 25 other tissues See more Orthologs mouse all