KIF21A (kinesin family member 21A)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55605 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Kinesin family member 21A |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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KIF21A |
SynonymsGene synonyms aliases
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CFEOM1, FEOM1, FEOM3A |
ChromosomeChromosome number
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12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121912585 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs121912586 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs121912587 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs121912588 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs121912589 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs121912590 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
rs267607200 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs864321718 |
G>A,C |
Pathogenic |
Synonymous variant, missense variant, coding sequence variant |
rs1555167299 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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5YBU
,
5YBV
,
7KLJ
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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 |
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Sequence |
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Sequence length |
1674 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
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 |
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 |
22941189 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Esotropia |
Esotropia, Secondary Esotropia |
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Exotropia |
Exotropia |
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Sensory exotropia |
Sensory exotropia |
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