Gene Gene information from NCBI Gene database.
Entrez ID 55605
Gene name Kinesin family member 21A
Gene symbol KIF21A
Synonyms (NCBI Gene)
CFEOM1FEOM1FEOM3A
Chromosome 12
Chromosome location 12q12
Summary 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
SNPs SNP information provided by dbSNP.
9
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
miRNA miRNA information provided by mirtarbase database.
219
miRTarBase ID miRNA Experiments Reference
MIRT021669 hsa-miR-140-3p Sequencing 20371350
MIRT047583 hsa-miR-10a-5p CLASH 23622248
MIRT047583 hsa-miR-10a-5p CLASH 23622248
MIRT047583 hsa-miR-10a-5p CLASH 23622248
MIRT047432 hsa-miR-10b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003777 Function Microtubule motor activity IBA
GO:0003777 Function Microtubule motor activity IEA
GO:0005515 Function Protein binding IPI 19020088, 19559006, 22084092, 24120883, 26496610
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608283 19349 ENSG00000139116
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
MLGAPDESSVRVAVRIRPQLAKEKIEGCHICTSVTPGEPQVFLGKDKAFTFDYVFDIDSQ
QEQIYIQCIEKLIEGCFEGYNATVFAYGQTGAGKTYTMGTGFDVNIVEEELGIISRAVKH
LFKSIEEKKHIAIKNGLPAPDFKVNAQFLELYNEEVLDLFDTTRDIDAKSKKSNIRIHED
STGGIYTVGVTTRTVNTESEMMQCLKLGALSRTTASTQMNVQSSRSHAIFTIHVCQTRVC
PQIDADNATDNKIISESAQMNEFETLTAKFHFVDLAGSERLKRTGATGERAKEGISINCG
LLALGNVISALGDKSKRATHVPYRDSKLTRLLQDSLGGNSQTIMIACVSPSDRDFMETLN
TLKYANRARNI
KNKVMVNQDRASQQINALRSEITRLQMELMEYKTGKRIIDEEGVESIND
MFHENAMLQTENNNLRVRIKAMQETVDALRSRITQLVSDQANHVLARAGEGNEEISNMIH
SYIKEIEDLRAKLLESEAVNENLRKNLTRATARAPYFSGSSTFSPTILSSDKETIEIIDL
AKKDLEKLKRKEKRKKKRLQKLEESNREERSVAGKEDNTDTDQEKKEEKGVSERENNELE
VEESQEVSDHEDEEEEEEEEEDDIDGGESSDESDSESDEKANYQADLANITCEIAIKQKL
IDELENSQKRLQTLKKQYEEKLMMLQHKIRDTQLERDQVLQNLGSVESYSEEKAKKVRSE
YEKKLQAMNKELQRLQAAQKEHARLLKNQSQYEKQLKKLQQDVMEMKKTKVRLMKQMKEE
QEKARLTESRRNREIAQLKKDQRKRDHQLRLLEAQKRNQEVVLRRKTEEVTALRRQVRPM
SDKVAGKVTRKLSSSDAPAQDTGSSAAAVETDASRTGAQQKMRIPVARVQALPTPATNGN
RKKYQRKGLTGRVFISKTARMKWQLLERRVTDIIMQKMTISNMEADMNRLLKQREELTKR
REKLSKRREKIVKENGEGDKNVANINEEMESLTANIDYINDSISDCQANIMQMEEAKEEG
ETLDVTAVINACTLTEARYLLDHFLSMGINKGLQAAQKEAQIKVLEGRLKQTEITSATQN
QLLFHMLKEKAELNPELDALLGHALQDLDSVPLENVEDSTDEDAPLNSPGSEGSTLSSDL
MKLCGEVKPKNKARRRTTTQMELLYADSSELASDTSTGDASLPGPLTPVAEGQEIGMNTE
TSGTSAREKELSPPPGLPSKIGSISRQSSLSEKKIPEPSPVTRRKAYEKAEKSKAKEQKH
SDSGTSEASLSPPSSPPSRPRNELNVFNRLTVSQGNTSVQQDKSDESDSSLSEVHRSSRR
GIINPFPASKGIRAFPLQCIHIAEGHTKAVLCVDSTDDLLFTGSKDRTCKVWNLVTGQEI
MSLGGHPNNVVSVKYCNYTSLVFTVSTSYIKVWDIRDSAKCIRTLTSSGQVTLGDACSAS
TSRTVAIPSGENQINQIALNPTGTFLYAASGNAVRMWDLKRFQSTGKLTGHLGPVMCLTV
DQISSGQDLIITGSKDHYIKMFD
VTEGALGTVSPTHNFEPPHYDGIEALTIQGDNLFSGS
RDNGIKKWDLTQKDLLQQVPNAHKDWVCALGVVPDHPVLLSGCRGGILKVWNMDTFMPVG
EMKGHDSPINAICVNSTHIFTAADDRTVRIWK
ARNLQDGQISDTGDLGEDIASN
Sequence length 1674
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Motor proteins   COPI-dependent Golgi-to-ER retrograde traffic
Kinesins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
185
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of eye movement Pathogenic rs121912586 RCV005234777
Congenital fibrosis of extraocular muscles type 1 Pathogenic; Likely pathogenic rs121912585, rs121912586, rs121912587, rs121912588, rs121912589, rs121912590, rs2500143880, rs2500405629, rs267603451 RCV000002538
RCV000002540
RCV000002542
RCV000002543
RCV000002544
RCV000002545
RCV003604605
RCV004546896
RCV003311584
Fibrosis of extraocular muscles, congenital, 3b Pathogenic rs121912585, rs121912586, rs267607200 RCV000002539
RCV000002541
RCV000002546
KIF21A-related disorder Pathogenic; Likely pathogenic rs121912585, rs121912590, rs1555167299 RCV003398420
RCV003402275
RCV003159607
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs145897823 RCV005893096
Clear cell carcinoma of kidney Benign rs145897823 RCV005893097
Colon adenocarcinoma Benign rs145897823 RCV005893093
Colorectal cancer Benign rs145897823 RCV005893098
Associations from Text MiningDisease associations identified through Pubtator
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