Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
55605
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Kinesin family member 21A |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
KIF21A |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CFEOM1, FEOM1, FEOM3A |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
CFEOM1 |
Chromosome
Chromosome number
|
12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q12 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubul |
UniProt ID |
Q7Z4S6
|
Protein name |
Kinesin-like protein KIF21A (Kinesin-like protein KIF2) (Renal carcinoma antigen NY-REN-62) |
Protein function |
Processive microtubule plus-end directed motor protein involved in neuronal axon guidance. Is recruited by KANK1 to cortical microtubule stabilizing complexes (CMSCs) at focal adhesions (FAs) rims where it promotes microtubule capture and stabil |
PDB |
5D3A
,
5NFD
,
5YBU
,
5YBV
,
7KLJ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00225
|
Kinesin |
15 → 371 |
Kinesin motor domain |
Domain |
PF00400
|
WD40 |
1337 → 1373 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
1482 → 1523 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
1575 → 1612 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
1616 → 1652 |
WD domain, G-beta repeat |
Repeat |
|
Sequence |
|
Sequence length |
1674 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Congenital fibrosis of extraocular muscles |
Congenital Fibrosis of the Extraocular Muscles, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder), Congenital fibrosis of extraocular muscles |
rs121912585, rs121912586, rs121912587, rs121912588, rs121912589, rs121912590, rs267603451 |
18332320 |
Fibrosis of extraocular muscles |
Fibrosis Of Extraocular Muscles, Congenital, 1 |
rs121912585, rs121912586, rs267607200, rs1590729541, rs1178102382, rs267607162, rs267607163, rs267607164, rs267607165, rs587784505, rs780209390, rs886037741, rs864321715, rs864321716, rs864321717, rs1057517908 View all (1 more) |
18332320, 16157808, 17511870, 24715754, 14595441 |
Lung carcinoma |
Small cell carcinoma of lung |
rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 View all (44 more) |
22941189 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Arthrogryposis multiplex congenita |
arthrogryposis multiplex congenita |
|
|
GenCC |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Agenesis of Corpus Callosum |
Associate
|
39643435 |
Aniridia |
Associate
|
23799907 |
Brain Diseases |
Associate
|
39643435 |
Carcinoma Pancreatic Ductal |
Associate
|
31489986 |
Congenital Cranial Dysinnervation Disorders |
Associate
|
23799907, 24426772, 36494820 |
congenital fibrosis of the extraocular muscles |
Associate
|
11882252, 12181522, 15747768, 17511870, 21042561, 21264235, 23535681, 23799907, 24715754, 27513105, 31541710, 33251926, 33806565, 36494820, 39643435 |
Corneal Ulcer |
Associate
|
31541710 |
Developmental Disabilities |
Associate
|
39643435 |
Duane Retraction Syndrome |
Associate
|
36494820 |
Exotropia |
Associate
|
31541710 |
Fibrosis of Extraocular Muscles Congenital 3B |
Associate
|
15747768, 15827546, 19373680, 21264235, 24426772, 27513105, 28930843, 29110737, 31541710, 33251926, 36138147, 39643435 |
Mobius Syndrome |
Associate
|
24715754 |
Muscle Neoplasms |
Associate
|
24426772 |
Ocular Motility Disorders |
Associate
|
27513105 |
Ophthalmoplegia |
Associate
|
28930843 |
Ophthalmoplegia |
Stimulate
|
9683611 |
Optic Nerve Diseases |
Associate
|
19373680 |
Peripheral Nervous System Diseases |
Associate
|
39643435 |
Strabismus |
Associate
|
21042561, 39643435 |
|