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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P63261 |
| Protein name |
Actin, cytoplasmic 2 (EC 3.6.4.-) (Gamma-actin) [Cleaved into: Actin, cytoplasmic 2, N-terminally processed] |
| Protein function |
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. May play a role in the repair of noise-induced stereocilia gaps thereby maintains hearing sensitivit |
| PDB |
5JLH
, 6CXI
, 6CXJ
, 6G2T
, 6V62
, 6V63
, 6WK1
, 6WK2
, 7NVM
, 8DNF
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00022 |
Actin |
2 → 375 |
Actin |
Family |
|
| Sequence |
|
| Sequence length |
375 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autosomal dominant nonsyndromic hearing loss 20 |
Likely pathogenic; Pathogenic |
rs2143775790, rs2143779222, rs1192977984, rs2143775617, rs2143779274, rs2544389679, rs2544392140, rs2544392281, rs2544388195, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs11549190, rs281875328, rs281875329, rs11549196, rs1555666789, rs781945750, rs1555666715, rs281875327, rs1362994447, rs1598551290, rs2031770749 View all (12 more) |
RCV001799523 RCV001799519 RCV001995932 RCV002052085 RCV002248961 RCV002819056 RCV002825106 RCV003153043 RCV003812340 RCV000019980 RCV000019981 RCV000019982 RCV000019983 RCV000019985 RCV000019986 RCV000019987 RCV002513166 RCV001851994 RCV000770804 RCV003766813 RCV000540741 RCV005223042 RCV002295307 RCV000990067 RCV002549941 RCV000995480 RCV001256638 |
| Baraitser-Winter syndrome |
Likely pathogenic |
rs281875327 |
RCV002068712 |
| Baraitser-winter syndrome 2 |
Likely pathogenic; Pathogenic |
rs2031775804, rs2143783696, rs2143779081, rs587780275, rs1192977984, rs2544389679, rs2544392140, rs2544392281, rs2544388195, rs104894545, rs267606631, rs11549231, rs1057518673, rs281875326, rs281875325, rs11549190, rs281875327, rs281875328, rs281875329, rs11549196, rs11549225, rs1555666789, rs781945750, rs1555666715, rs1555666392, rs1362994447, rs1598548256, rs1598551290, rs2031759596 View all (14 more) |
RCV001310277 RCV001375961 RCV001809032 RCV000116227 RCV001995932 RCV002819056 RCV002825106 RCV003778914 RCV003812340 RCV003764612 RCV005222696 RCV004566607 RCV000415380 RCV000022422 RCV000022423 RCV000022424 RCV000022425 RCV000022426 RCV000022427 RCV000501273 RCV001255976 RCV000540741 RCV005223042 RCV002287431 RCV001775138 RCV002549941 RCV000995479 RCV001858814 RCV001330618 |
| Congenital anomaly of kidney and urinary tract |
Pathogenic |
rs281875326 |
RCV001849278 |
| Hearing impairment |
Likely pathogenic; Pathogenic |
rs267606631 |
RCV001375049 |
| Lissencephaly |
Likely pathogenic; Pathogenic |
rs281875328, rs281875329 |
RCV001291054 RCV001291159 |
| Microcephaly |
Pathogenic |
rs2031759596 |
RCV001252691 |
| Monogenic hearing loss |
Likely pathogenic |
rs1555666509 |
RCV005863242 |
| Neurodevelopmental delay |
Likely pathogenic; Pathogenic |
rs1555666392 |
RCV002274075 |
| Nonsyndromic genetic hearing loss |
Pathogenic |
rs104894544 |
RCV001568362 |
| Rare genetic deafness |
Likely pathogenic; Pathogenic |
rs267606631, rs1555666715, rs113262912 |
RCV000211710 RCV000602707 RCV000826155 |
| See cases |
Likely pathogenic; Pathogenic |
rs281875325 |
RCV002251922 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| ACTG1-related disorder |
Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance |
rs368022367, rs376850595, rs374907377, rs370369574, rs141964376, rs373771602, rs2143777781, rs143978597, rs1598548706, rs201036516, rs61997063, rs201748657, rs2544386395, rs11549211, rs566543337, rs1358455180, rs782540819, rs111305526, rs145303691, rs1263123547, rs782108009, rs781865448, rs2544393285, rs199507088, rs1598547000, rs536476533, rs2544386979, rs2544388768, rs202020778, rs782219990, rs1555666347, rs782442814, rs144338558, rs146865914, rs186289501, rs148528303, rs142893042, rs182162229, rs782289893, rs150136833, rs368299537, rs144114953, rs140846345, rs146402466, rs11549222, rs1568062708, rs375903517, rs139339869, rs372370199, rs149682185, rs369691985, rs782795413, rs200000684, rs1598548614, rs2031855864 View all (40 more) |
RCV004550313 RCV004551900 RCV004551909 RCV004551938 RCV004728781 RCV004738361 RCV004552031 RCV004549576 RCV004738538 RCV004553665 RCV004737240 RCV004551352 RCV004548306 RCV004548335 RCV004548356 RCV004548442 RCV004548445 RCV004549610 RCV004549614 RCV004550672 RCV004550794 RCV004550767 RCV004550683 RCV004551030 RCV004548942 RCV004548764 RCV004548772 RCV004548775 RCV004552816 RCV004554401 RCV004554397 RCV004551438 RCV004551483 RCV004551462 RCV004551453 RCV004551437 RCV004551436 RCV004551624 RCV004551642 RCV004553348 RCV004553349 RCV004553359 RCV004547748 RCV004547747 RCV004547750 RCV004549453 RCV004547850 RCV004549906 RCV004549990 RCV004549994 RCV004738041 RCV004549987 RCV004551717 RCV004553459 RCV003117736 RCV005225339 |
| Acute myeloid leukemia |
Benign; Likely benign |
rs140724578, rs28698582 |
RCV005893912 RCV005899980 |
| Cervical cancer |
Benign; Likely benign |
rs140724578, rs28698582 |
RCV005893914 RCV005899982 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs146402466 |
RCV005899988 |
| Familial cancer of breast |
Benign; Likely benign |
rs140724578, rs28698582 |
RCV005893911 RCV005899979 |
| Gastric cancer |
Benign; Likely benign |
rs140724578 |
RCV005893917 |
| Intellectual disability |
Likely benign |
rs369691985, rs782481421 |
RCV001251655 RCV001251656 |
| Lung cancer |
Benign; Likely benign |
rs140724578, rs28698582 |
RCV005893922 RCV005899986 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs140724578, rs28698582 |
RCV005893913 RCV005899981 |
| Melanoma |
Benign; Likely benign |
rs140724578 |
RCV005893921 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs140724578 |
RCV005893918 |
| Sarcoma |
Benign; Likely benign |
rs140724578, rs28698582 |
RCV005893916 RCV005899983 |
| Thymoma |
Benign; Likely benign |
rs140724578, rs28698582 |
RCV005893919 RCV005899985 |
| Thyroid cancer, nonmedullary, 1 |
Benign; Likely benign |
rs140724578 |
RCV005893920 |
| Uterine carcinosarcoma |
Likely benign |
rs28698582 |
RCV005899984 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs140724578, rs28698582 |
RCV005894915 RCV005899987 |
| Uveal melanoma |
Benign; Likely benign |
rs140724578 |
RCV005893915 |
|
| Disease Name |
Relationship Type |
References |
| Amblyopia |
Associate |
39639254 |
| Amyotrophic lateral sclerosis 1 |
Associate |
23006766 |
| Aortic Dissection |
Associate |
21288906 |
| Arthritis Rheumatoid |
Associate |
33430905, 37426641 |
| Atypical Hemolytic Uremic Syndrome |
Associate |
37373158 |
| Cancer Pain |
Associate |
35349390 |
| Carcinoma Hepatocellular |
Associate |
34856725 |
| Carcinoma Pancreatic Ductal |
Associate |
34856725 |
| Carcinoma Renal Cell |
Associate |
33759378 |
| Carcinosarcoma |
Associate |
33217970 |
| Clear cell metastatic renal cell carcinoma |
Associate |
33759378 |
| Colorectal Neoplasms |
Associate |
35349390 |
| COVID 19 |
Associate |
35386063 |
| Deafness |
Associate |
16690605, 19419963, 22718764, 29620237, 30682115, 34997062, 35054877 |
| Deafness Autosomal Dominant 20 |
Associate |
13680526, 35054877 |
| Deafness Autosomal Recessive 26 |
Associate |
35054877 |
| Depressive Disorder |
Associate |
35349390 |
| Diabetic Nephropathies |
Associate |
26156684 |
| Dwarfism stiff joint ocular abnormalities |
Associate |
25052316 |
| Dysautonomia Familial |
Associate |
25052316 |
| Dysentery Bacillary |
Associate |
34938284 |
| Endometrial Neoplasms |
Associate |
33217970 |
| Fryns Aftimos Syndrome |
Associate |
25052316 |
| Genetic Diseases Inborn |
Associate |
14684684 |
| Hearing Loss |
Associate |
12519370, 14684684, 19419963, 22938506, 24164807, 26832775, 27096712, 29620237, 34440452, 36194208 |
| Hearing Loss Sensorineural |
Associate |
29986705, 35054877 |
| Intellectual Disability |
Associate |
23756437 |
| Lissencephaly |
Associate |
25052316, 29671837 |
| Lung Neoplasms |
Associate |
38066059 |
| Machado Joseph Disease |
Associate |
34871736 |
| Malformations of Cortical Development |
Associate |
32570172 |
| Malformations of Cortical Development Group II |
Associate |
23756437 |
| Megalencephalic leukoencephalopathy with subcortical cysts |
Associate |
16690605 |
| Melanoma |
Associate |
32326615 |
| Neoplasm Metastasis |
Associate |
34455760 |
| Neoplasms |
Associate |
33217970, 34455760, 34856725 |
| Neoplasms Cystic Mucinous and Serous |
Stimulate |
33217970 |
| Nephropathy Progressive with Deafness |
Associate |
13680526 |
| Neurotoxicity Syndromes |
Associate |
25084203 |
| Nonsyndromic Deafness |
Associate |
16690605, 23506231, 25388789, 29620237 |
| Nonsyndromic Deafness |
Stimulate |
19419963, 22718764 |
| Nonsyndromic sensorineural hearing loss |
Associate |
12519370, 26832775, 27096712 |
| Obsessive Compulsive Disorder |
Associate |
36205783 |
| Orofaciodigital syndrome 11 |
Associate |
23756437 |
| Pemphigus |
Associate |
39593117 |
| Periventricular Nodular Heterotopia |
Associate |
25052316 |
| Ptosis Hereditary Congenital 2 |
Associate |
23756437 |
| Pulmonary edema of mountaineers |
Associate |
40640242 |
| Uterine Cervical Neoplasms |
Associate |
31271297 |
| Uterine Neoplasms |
Associate |
33217970 |
|