ENSG00000147416
Homo sapiens | |
Features
| Gene ID: | ENSG00000147416 | | | | | Biological name : | ATP6V1B2 | | | | | Synonyms : | ATP6V1B2 / ATPase H+ transporting V1 subunit B2 / P21281 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 8 | | Strand: | 1 | | Band: | p21.3 | | Gene start: | 20197367 | | Gene end: | 20226819 | | | | | Corresponding Affymetrix probe sets: | 201089_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000428069
Ensembl peptide - ENSP00000430866
Ensembl peptide - ENSP00000430682
Ensembl peptide - ENSP00000430154
Ensembl peptide - ENSP00000276390
NCBI entrez gene - 526
See in Manteia.
OMIM - 606939
RefSeq - NM_001693
RefSeq Peptide - NP_001684
swissprot - H0YC04
swissprot - H0YC45
swissprot - E5RGH6
swissprot - P21281
swissprot - A0A140VK65
swissprot - H0YAT8
Ensembl - ENSG00000147416
| | | | | Related genetic diseases (OMIM): | 124480 - Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 | | | 616455 - Zimmermann-Laband syndrome 2, 616455 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000194 | ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain | | IPR004100 | ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain | | IPR005723 | ATPase, V1 complex, subunit B | | IPR020003 | ATPase, alpha/beta subunit, nucleotide-binding domain, active site | | IPR022879 | V-type ATP synthase regulatory subunit B/beta | | IPR024034 | ATPase, F1/V1 complex, beta/alpha subunit, C-terminal | | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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| | HP:0000212 | Gingival hyperplasia | |
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| | HP:0000349 | Widow s peak | |
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| | HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| | HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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| | HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| | HP:0000456 | Bifid nasal tip | "A splitting of the nasal tip. This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation." [HPO:curators] |
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| | HP:0000470 | Short neck | |
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| | HP:0000574 | Thick eyebrows | |
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| | HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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| | HP:0000698 | Conical teeth | |
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| | HP:0001156 | Brachydactyly | |
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| | HP:0001199 | Triphalangeal thumb | "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators] |
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| | HP:0001249 | Mental retardation | |
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| | HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| | HP:0001592 | Selective tooth agenesis | |
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| | HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| | HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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| | HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| | HP:0002002 | Deep philtrum | |
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| | HP:0002808 | Kyphosis | |
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| | HP:0003577 | Onset at birth | |
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| | HP:0003812 | Phenotypic variability | |
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| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| | HP:0005322 | Prominent nasal septum | |
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| | HP:0007529 | Hidrotic ectodermal dysplasia | |
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| | HP:0008404 | Nail dystrophy, variable | |
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| | HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
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Interacting proteins (from Reactome)
| ENSG00000116039 | P15313 / ATP6V1B1 / ATPase H+ transporting V1 subunit B1 | / complex | | ENSG00000147416 | P21281 / ATP6V1B2 / ATPase H+ transporting V1 subunit B2 | / complex |
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