GAS2
entrez
2620
canonical
uniprot
O43903
canonical
ensembl
ENSG00000148935
resolver
ensp
ENSP00000278187
resolver
ensp
ENSP00000401145
resolver
ensp
ENSP00000435946
resolver
ensp
ENSP00000537110
resolver
ensp
ENSP00000537111
resolver
ensp
ENSP00000537112
resolver
ensp
ENSP00000537113
resolver
ensp
ENSP00000611681
resolver
ensp
ENSP00000791042
resolver
genesymbol
GAS2
resolver
hgnc
HGNC:4167
resolver
uniprot
B2R9C8
resolver
uniprot
D3DQZ0
resolver
uniprot
Q6ICV8
resolver
uniprot
Q7Z3X8
resolver
uniprot_entry
GAS2_HUMAN
resolver
uniprot_sec
B2R9C8
resolver
uniprot_sec
D3DQZ0
resolver
uniprot_sec
Q6ICV8
resolver
uniprot_sec
Q7Z3X8
resolver
amino_acid_sequence
MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNGALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDETCLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKSSGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRMLHNKHVMVRVGGGWETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVVSASYKAKKEIK
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 125 (DFNB125) [MIM:620877]: A form of non-syndromic deafness characterized by congenital sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:33964205}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required to maintain microtubule bundles in inner ear supporting cells, affording them with mechanical stiffness to transmit sound energy through the cochlea. {ECO:0000250|UniProtKB:P11862}.
uniprot
proteins
mass_dalton
34945
uniprot
proteins
post_translational_modification
PTM: Cleaved, during apoptosis, on a specific aspartic residue by caspases.; PTM: Phosphorylated on serine residues during the G0-G1 transition phase. {ECO:0000250}.
uniprot
proteins
protein_family
GAS2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24706950
uniprot
proteins
pubmed
33964205
uniprot
proteins
pubmed
9521882
uniprot
proteins
sequence_length
313
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:24706950}. Membrane {ECO:0000250|UniProtKB:P11862}; Peripheral membrane protein {ECO:0000250|UniProtKB:P11862}. Note=Component of the microfilament system. Colocalizes with actin fibers at the cell border and along the stress fibers in growth-arrested fibroblasts. Mainly membrane-associated. When hyperphosphorylated, accumulates at membrane ruffles (By similarity). Colocalizes with detyrosinated alpha-tubulin along the length of microtubule bundles in inner and outer pillar cells (By similarity). {ECO:0000250|UniProtKB:P11862}.
uniprot
proteins