psui3905/ncbi_genes_summary huggingface dataset:
HAND1, Official Symbol HAND1provided by HGNC Official Full Name heart and neural crest derivatives expressed 1provided by HGNC Primary source HGNC:HGNC:4807 See related Ensembl:ENSG00000113196 MIM:602406; AllianceGenome:HGNC:4807 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 Hxt; eHand; Thing1; bHLHa27 Summary The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 3.2), adrenal (RPKM 2.4) and 5 other tissues See more Orthologs mouse all
HAND2, Official Symbol HAND2provided by HGNC Official Full Name heart and neural crest derivatives expressed 2provided by HGNC Primary source HGNC:HGNC:4808 See related Ensembl:ENSG00000164107 MIM:602407; AllianceGenome:HGNC:4808 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 Hed; dHand; DHAND2; Thing2; bHLHa26 Summary The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008] Expression Biased expression in endometrium (RPKM 25.0), adrenal (RPKM 21.4) and 12 other tissues See more Orthologs mouse all
HAND2-AS1, Official Symbol HAND2-AS1provided by HGNC Official Full Name HAND2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48872 See related Ensembl:ENSG00000237125 MIM:617240; AllianceGenome:HGNC:48872 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UPH; DEIN; NBLA00301 Summary Predicted to be involved in positive regulation of gene expression. Predicted to act upstream of or within with a positive effect on cardiac right ventricle morphogenesis. Predicted to act upstream of or within transcription elongation from RNA polymerase II promoter. Predicted to be located in chromatin; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in endometrium (RPKM 13.8), adrenal (RPKM 11.4) and 8 other tissues See more Orthologs mouse all
HAO1, Official Symbol HAO1provided by HGNC Official Full Name hydroxyacid oxidase 1provided by HGNC Primary source HGNC:HGNC:4809 See related Ensembl:ENSG00000101323 MIM:605023; AllianceGenome:HGNC:4809 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 GO; GOX; GOX1; HAOX1 Summary This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 144.8) See more Orthologs mouse all
HAO2, Official Symbol HAO2provided by HGNC Official Full Name hydroxyacid oxidase 2provided by HGNC Primary source HGNC:HGNC:4810 See related Ensembl:ENSG00000116882 MIM:605176; AllianceGenome:HGNC:4810 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 GIG16; HAOX2 Summary This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Biased expression in kidney (RPKM 63.1) and liver (RPKM 51.5) See more Orthologs mouse all
HAO2-IT1, Official Symbol HAO2-IT1provided by HGNC Official Full Name HAO2 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41342 See related Ensembl:ENSG00000230921 AllianceGenome:HGNC:41342 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 Low expression observed in reference dataset See more
HAP1, Official Symbol HAP1provided by HGNC Official Full Name huntingtin associated protein 1provided by HGNC Primary source HGNC:HGNC:4812 See related Ensembl:ENSG00000173805 MIM:600947; AllianceGenome:HGNC:4812 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 HLP; HAP2; HIP5; hHLP1 Summary Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 6.7), brain (RPKM 3.4) and 9 other tissues See more Orthologs mouse all
HAPLN1, Official Symbol HAPLN1provided by HGNC Official Full Name hyaluronan and proteoglycan link protein 1provided by HGNC Primary source HGNC:HGNC:2380 See related Ensembl:ENSG00000145681 MIM:115435; AllianceGenome:HGNC:2380 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 CRT1; CRTL1 Summary Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in central nervous system development and skeletal system development. Colocalizes with collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 20.1), small intestine (RPKM 4.0) and 5 other tissues See more Orthologs mouse all
HAPLN2, Official Symbol HAPLN2provided by HGNC Official Full Name hyaluronan and proteoglycan link protein 2provided by HGNC Primary source HGNC:HGNC:17410 See related Ensembl:ENSG00000132702 MIM:619726; AllianceGenome:HGNC:17410 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 BRAL1 Summary Predicted to enable hyaluronic acid binding activity. Predicted to be involved in central nervous system development and skeletal system development. Predicted to act upstream of or within establishment of blood-nerve barrier and extracellular matrix assembly. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 7.0), prostate (RPKM 0.6) and 2 other tissues See more Orthologs mouse all
HAPLN3, Official Symbol HAPLN3provided by HGNC Official Full Name hyaluronan and proteoglycan link protein 3provided by HGNC Primary source HGNC:HGNC:21446 See related Ensembl:ENSG00000140511 AllianceGenome:HGNC:21446 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 EXLD1; HsT19883 Summary This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 11.8), appendix (RPKM 10.0) and 20 other tissues See more Orthologs mouse all
HAPLN4, Official Symbol HAPLN4provided by HGNC Official Full Name hyaluronan and proteoglycan link protein 4provided by HGNC Primary source HGNC:HGNC:31357 See related Ensembl:ENSG00000187664 MIM:619710; AllianceGenome:HGNC:31357 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 BRAL2 Summary Predicted to enable hyaluronic acid binding activity. Predicted to be involved in central nervous system development and skeletal system development. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 9.9), duodenum (RPKM 7.8) and 4 other tissues See more Orthologs mouse all
HAR1A, Official Symbol HAR1Aprovided by HGNC Official Full Name highly accelerated region 1Aprovided by HGNC Primary source HGNC:HGNC:33117 See related MIM:610556; AllianceGenome:HGNC:33117 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HAR1F; LINC00064; NCRNA00064 Expression Broad expression in brain (RPKM 1.1), testis (RPKM 0.4) and 21 other tissues See more
HAR1B, Official Symbol HAR1Bprovided by HGNC Official Full Name highly accelerated region 1Bprovided by HGNC Primary source HGNC:HGNC:33118 See related Ensembl:ENSG00000231133 MIM:610557; AllianceGenome:HGNC:33118 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HAR1R; LINC00065; NCRNA00065 Expression Biased expression in testis (RPKM 2.6), brain (RPKM 0.9) and 6 other tissues See more
HARBI1, Official Symbol HARBI1provided by HGNC Official Full Name harbinger transposase derived 1provided by HGNC Primary source HGNC:HGNC:26522 See related Ensembl:ENSG00000180423 MIM:615086; AllianceGenome:HGNC:26522 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 C11orf77 Summary Predicted to enable metal ion binding activity and nuclease activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. Located in centriolar satellite; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 5.1), brain (RPKM 1.4) and 25 other tissues See more Orthologs mouse all
HARS1, Official Symbol HARS1provided by HGNC Official Full Name histidyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:4816 See related Ensembl:ENSG00000170445 MIM:142810; AllianceGenome:HGNC:4816 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 HRS; HARS; CMT2W; USH3B Summary Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in brain (RPKM 24.1), skin (RPKM 18.9) and 25 other tissues See more Orthologs mouse all
HARS2, Official Symbol HARS2provided by HGNC Official Full Name histidyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:4817 See related Ensembl:ENSG00000112855 MIM:600783; AllianceGenome:HGNC:4817 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 HO3; HARSL; HARSR; HisRS; PRLTS2 Summary Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in colon (RPKM 9.6), endometrium (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
HAS1, Official Symbol HAS1provided by HGNC Official Full Name hyaluronan synthase 1provided by HGNC Primary source HGNC:HGNC:4818 See related Ensembl:ENSG00000105509 MIM:601463; AllianceGenome:HGNC:4818 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 HAS Summary Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Broad expression in appendix (RPKM 1.7), ovary (RPKM 1.2) and 14 other tissues See more Orthologs mouse all
HAS2, Official Symbol HAS2provided by HGNC Official Full Name hyaluronan synthase 2provided by HGNC Primary source HGNC:HGNC:4819 See related Ensembl:ENSG00000170961 MIM:601636; AllianceGenome:HGNC:4819 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 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 7.0), gall bladder (RPKM 6.4) and 18 other tissues See more Orthologs mouse all
HAS2-AS1, Official Symbol HAS2-AS1provided by HGNC Official Full Name HAS2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:34340 See related MIM:614353; AllianceGenome:HGNC:34340 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HASNT; HAS2AS; HAS2-AS; NCRNA00077 Expression Low expression observed in reference dataset See more
HAS3, Official Symbol HAS3provided by HGNC Official Full Name hyaluronan synthase 3provided by HGNC Primary source HGNC:HGNC:4820 See related Ensembl:ENSG00000103044 MIM:602428; AllianceGenome:HGNC:4820 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 The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] Expression Broad expression in urinary bladder (RPKM 19.2), lung (RPKM 12.8) and 24 other tissues See more Orthologs mouse all
HASPIN, Official Symbol HASPINprovided by HGNC Official Full Name histone H3 associated protein kinaseprovided by HGNC Primary source HGNC:HGNC:19682 See related Ensembl:ENSG00000177602 MIM:609240; AllianceGenome:HGNC:19682 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 GSG2 Summary Enables ATP binding activity and histone kinase activity (H3-T3 specific). Involved in histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore; intracellular signal transduction; and mitotic sister chromatid cohesion. Located in centrosome; nucleoplasm; and spindle. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
HAT1, Official Symbol HAT1provided by HGNC Official Full Name histone acetyltransferase 1provided by HGNC Primary source HGNC:HGNC:4821 See related Ensembl:ENSG00000128708 MIM:603053; AllianceGenome:HGNC:4821 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 KAT1 Summary The protein encoded by this gene is a type B histone acetyltransferase (HAT) that is involved in the rapid acetylation of newly synthesized cytoplasmic histones, which are in turn imported into the nucleus for de novo deposition onto nascent DNA chains. Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. Specifically, this HAT can acetylate soluble but not nucleosomal histone H4 at lysines 5 and 12, and to a lesser degree, histone H2A at lysine 5. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jun 2009] Expression Ubiquitous expression in lymph node (RPKM 13.0), bone marrow (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
HAUS1, Official Symbol HAUS1provided by HGNC Official Full Name HAUS augmin like complex subunit 1provided by HGNC Primary source HGNC:HGNC:25174 See related Ensembl:ENSG00000152240 MIM:608775; AllianceGenome:HGNC:25174 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 HEIC; CCDC5; HEI-C; HsT1461 Summary HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] Expression Ubiquitous expression in lymph node (RPKM 14.6), bone marrow (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
HAUS2, Official Symbol HAUS2provided by HGNC Official Full Name HAUS augmin like complex subunit 2provided by HGNC Primary source HGNC:HGNC:25530 See related Ensembl:ENSG00000137814 MIM:613429; AllianceGenome:HGNC:25530 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 CEP27; C15orf25; HsT17025 Summary The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in bone marrow (RPKM 7.1), brain (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
HAUS3, Official Symbol HAUS3provided by HGNC Official Full Name HAUS augmin like complex subunit 3provided by HGNC Primary source HGNC:HGNC:28719 See related Ensembl:ENSG00000214367 MIM:613430; AllianceGenome:HGNC:28719 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 IT1; dgt3; C4orf15 Summary This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in bone marrow (RPKM 19.8), lymph node (RPKM 8.7) and 24 other tissues See more Orthologs mouse all
HAUS4, Official Symbol HAUS4provided by HGNC Official Full Name HAUS augmin like complex subunit 4provided by HGNC Primary source HGNC:HGNC:20163 See related Ensembl:ENSG00000092036 MIM:613431; AllianceGenome:HGNC:20163 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 C14orf94 Summary This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in ovary (RPKM 23.6), bone marrow (RPKM 22.4) and 25 other tissues See more Orthologs mouse all
HAUS5, Official Symbol HAUS5provided by HGNC Official Full Name HAUS augmin like complex subunit 5provided by HGNC Primary source HGNC:HGNC:29130 See related Ensembl:ENSG00000249115 MIM:613432; AllianceGenome:HGNC:29130 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 dgt5; KIAA0841 Summary HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] Expression Ubiquitous expression in testis (RPKM 4.9), lymph node (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
HAUS6, Official Symbol HAUS6provided by HGNC Official Full Name HAUS augmin like complex subunit 6provided by HGNC Primary source HGNC:HGNC:25948 See related Ensembl:ENSG00000147874 MIM:613433; AllianceGenome:HGNC:25948 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 Dgt6; FAM29A Summary The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] Expression Broad expression in testis (RPKM 9.5), lymph node (RPKM 4.7) and 24 other tissues See more Orthologs mouse all
HAUS6P1, Official Symbol HAUS6P1provided by HGNC Official Full Name HAUS augmin like complex subunit 6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43764 See related Ensembl:ENSG00000227344 AllianceGenome:HGNC:43764 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HAUS6P3, Official Symbol HAUS6P3provided by HGNC Official Full Name HAUS augmin like complex subunit 6 pseudogene 3provided by HGNC Primary source HGNC:HGNC:50772 See related AllianceGenome:HGNC:50772 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HAUS7, Official Symbol HAUS7provided by HGNC Official Full Name HAUS augmin like complex subunit 7provided by HGNC Primary source HGNC:HGNC:32979 See related Ensembl:ENSG00000213397 MIM:300540; AllianceGenome:HGNC:32979 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 UIP1; UCHL5IP Summary This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] Expression Ubiquitous expression in skin (RPKM 11.4), spleen (RPKM 5.8) and 24 other tissues See more Orthologs mouse all
HAUS8, Official Symbol HAUS8provided by HGNC Official Full Name HAUS augmin like complex subunit 8provided by HGNC Primary source HGNC:HGNC:30532 See related Ensembl:ENSG00000131351 MIM:613434; AllianceGenome:HGNC:30532 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 DGT4; HICE1; NY-SAR-48 Summary HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] Expression Broad expression in testis (RPKM 8.8), lymph node (RPKM 7.3) and 24 other tissues See more Orthologs mouse all
HAUS8P1, Official Symbol HAUS8P1provided by HGNC Official Full Name HAUS augmin like complex subunit 8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43766 See related Ensembl:ENSG00000257300 AllianceGenome:HGNC:43766 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HAVCR1, Official Symbol HAVCR1provided by HGNC Official Full Name hepatitis A virus cellular receptor 1provided by HGNC Primary source HGNC:HGNC:17866 See related Ensembl:ENSG00000113249 MIM:606518; AllianceGenome:HGNC:17866 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 TIM; KIM1; TIM1; CD365; HAVCR; KIM-1; TIM-1; TIMD1; TIMD-1; HAVCR-1 Summary The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. The protein is a receptor for multiple other viruses, including Ebola virus, Marburg virus, Dengue virus, and Zika virus and is a possible entry factor for SARS-CoV-2 and other coronaviruses. [provided by RefSeq, Sep 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Biased expression in kidney (RPKM 1.3), colon (RPKM 1.2) and 6 other tissues See more Orthologs all
HAVCR2, Official Symbol HAVCR2provided by HGNC Official Full Name hepatitis A virus cellular receptor 2provided by HGNC Primary source HGNC:HGNC:18437 See related Ensembl:ENSG00000135077 MIM:606652; AllianceGenome:HGNC:18437 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 TIM3; CD366; KIM-3; SPTCL; TIMD3; Tim-3; TIMD-3; HAVcr-2 Summary The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011] Expression Broad expression in lymph node (RPKM 12.1), spleen (RPKM 10.5) and 23 other tissues See more Orthologs mouse all
HAX1, Official Symbol HAX1provided by HGNC Official Full Name HCLS1 associated protein X-1provided by HGNC Primary source HGNC:HGNC:16915 See related Ensembl:ENSG00000143575 MIM:605998; AllianceGenome:HGNC:16915 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 SCN3; HS1BP1; HCLSBP1 Summary The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 48.3), thyroid (RPKM 38.9) and 25 other tissues See more Orthologs mouse all
HBA1, Official Symbol HBA1provided by HGNC Official Full Name hemoglobin subunit alpha 1provided by HGNC Primary source HGNC:HGNC:4823 See related Ensembl:ENSG00000206172 MIM:141800; AllianceGenome:HGNC:4823 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 HBH; ECYT7; HBA-T3; METHBA Summary The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] Annotation information Note: We are aware that there is inconsistency among GenBank, RefSeq, and other browsers about the gene order in the alpha globin cluster. According to review by staff at HbVar (http://globin.bx.psu.edu/hbvar/menu.html), the gene order, telomere to centromere, for these loci is ...HBZ(HBZ2)..HBZP(HBZ1)..HBA2..HBA1... [13 Feb 2013] Orthologs all
HBA2, Official Symbol HBA2provided by HGNC Official Full Name hemoglobin subunit alpha 2provided by HGNC Primary source HGNC:HGNC:4824 See related Ensembl:ENSG00000188536 MIM:141850; AllianceGenome:HGNC:4824 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 HBH; ECYT7; HBA-T2 Summary The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] Annotation information Note: We are aware that there is inconsistency among GenBank, RefSeq, and other browsers about the gene order in the alpha globin cluster. According to review by staff at HbVar (http://globin.bx.psu.edu/hbvar/menu.html), the gene order, telomere to centromere, for these loci is ...HBZ(HBZ2)..HBZP(HBZ1)..HBA2..HBA1... [13 Feb 2013]
HBAP1, Official Symbol HBAP1provided by HGNC Official Full Name hemoglobin subunit alpha pseudogene 1provided by HGNC Primary source HGNC:HGNC:4825 See related Ensembl:ENSG00000225323 AllianceGenome:HGNC:4825 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HBA3; HBA3P; HBA-T1
HBB, Official Symbol HBBprovided by HGNC Official Full Name hemoglobin subunit betaprovided by HGNC Primary source HGNC:HGNC:4827 See related Ensembl:ENSG00000244734 MIM:141900; AllianceGenome:HGNC:4827 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 ECYT6; CD113t-C; beta-globin Summary The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] Orthologs all
HBD, Gene symbol HBD Gene description hypophosphatemic bone disease Primary source MIM:146350 Gene type unknown Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HBE1, Official Symbol HBE1provided by HGNC Official Full Name hemoglobin subunit epsilon 1provided by HGNC Primary source HGNC:HGNC:4830 See related Ensembl:ENSG00000213931 MIM:142100; AllianceGenome:HGNC:4830 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 HBE Summary The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008] Orthologs mouse all
HBEGF, Official Symbol HBEGFprovided by HGNC Official Full Name heparin binding EGF like growth factorprovided by HGNC Primary source HGNC:HGNC:3059 See related Ensembl:ENSG00000113070 MIM:126150; AllianceGenome:HGNC:3059 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 DTR; DTS; DTSF; HEGFL Summary Enables growth factor activity and heparin binding activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; positive regulation of protein kinase B signaling; and positive regulation of wound healing. Located in cell surface and extracellular space. Implicated in glomerulosclerosis and perinatal necrotizing enterocolitis. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 39.1), esophagus (RPKM 22.6) and 20 other tissues See more Orthologs mouse all
HBG1, Official Symbol HBG1provided by HGNC Official Full Name hemoglobin subunit gamma 1provided by HGNC Primary source HGNC:HGNC:4831 See related Ensembl:ENSG00000213934 MIM:142200; AllianceGenome:HGNC:4831 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 HBGA; HBGR; HBG-T2; HSGGL1; PRO2979 Summary The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
HBG2, Official Symbol HBG2provided by HGNC Official Full Name hemoglobin subunit gamma 2provided by HGNC Primary source HGNC:HGNC:4832 See related Ensembl:ENSG00000196565 MIM:142250; AllianceGenome:HGNC:4832 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 TNCY; HBG-T1 Summary The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] Orthologs all
HBM, Official Symbol HBMprovided by HGNC Official Full Name hemoglobin subunit muprovided by HGNC Primary source HGNC:HGNC:4826 See related Ensembl:ENSG00000206177 MIM:609639; AllianceGenome:HGNC:4826 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 HBK; HBAP2 Summary The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008] Orthologs all