ENSG00000261456
Homo sapiens | |
Features
| Gene ID: | ENSG00000261456 | | | | | Biological name : | TUBB8 | | | | | Synonyms : | Q3ZCM7 / TUBB8 / tubulin beta 8 class VIII | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 10 | | Strand: | -1 | | Band: | p15.3 | | Gene start: | 46892 | | Gene end: | 74163 | | | | | Corresponding Affymetrix probe sets: | | | | | | Cross references: | Ensembl peptide - ENSP00000454878
Ensembl peptide - ENSP00000457610
Ensembl peptide - ENSP00000457062
Ensembl peptide - ENSP00000456899
Ensembl peptide - ENSP00000456206
Ensembl peptide - ENSP00000454914
NCBI entrez gene - 347688
See in Manteia.
OMIM - 616768
RefSeq - XM_011519459
RefSeq - NM_177987
RefSeq Peptide - NP_817124
swissprot - A0A075B735
swissprot - A0A075B736
swissprot - A0A075B724
swissprot - Q3ZCM7
swissprot - Q5SQY0
swissprot - A0A075B725
Ensembl - ENSG00000261456
| | | | | Related genetic diseases (OMIM): | 616780 - Oocyte maturation defect 2, 616780 |
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)
No match
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0008222 | Female infertility | |
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Interacting proteins (from Reactome)
No match
0 s.
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