KIF26A kinesin family member 26A [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIF26Aprovided by HGNC
Official Full Name: kinesin family member 26Aprovided by HGNC
Primary source: HGNC:HGNC:20226
See related: Ensembl:ENSG00000066735 MIM:613231; AllianceGenome:HGNC:20226
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CDCBM11
Summary: Predicted to enable microtubule binding activity. Involved in cerebral cortex development; regulation of neuron migration; and regulation of neuron projection development. Predicted to be located in cytosol. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in fat (RPKM 3.9), spleen (RPKM 2.2) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.33

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (104138587..104180894)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (98375914..98418495)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (104604924..104647231)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Title: KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
Title: Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cortical dysplasia, complex, with other brain malformations 11 MedGen: C5774270 OMIM: 620156 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
NOT enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
NOT enables microtubule motor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in enteric nervous system development	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in microtubule-based movement	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell growth by extracellular stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in microtubule	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kinesin-like protein KIF26A

Names: KIF26A variant protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015656.2 → NP_056471.1 kinesin-like protein KIF26A

See identical proteins and their annotated locations for NP_056471.1

Status: VALIDATED

Source sequence(s)

AL359399

Consensus CDS

CCDS45171.1

UniProtKB/Swiss-Prot

Q8TAZ7, Q96GK3, Q9UFL3, Q9ULI4

UniProtKB/TrEMBL

B0I1R4

Related

ENSP00000388241.2, ENST00000423312.7

Conserved Domains (4) summary

smart00129
Location:372 → 731

KISc; Kinesin motor, catalytic domain. ATPase

COG3416
Location:1552 → 1673

COG3416; Uncharacterized protein [Function unknown]

PRK07764
Location:844 → 1285

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd00106
Location:371 → 723

KISc; Kinesin motor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

104138587..104180894

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011536641.3 → XP_011534943.1 kinesin-like protein KIF26A isoform X1

UniProtKB/TrEMBL

C9JFF0

Conserved Domains (4) summary

smart00129
Location:63 → 422

KISc; Kinesin motor, catalytic domain. ATPase

COG3416
Location:1243 → 1364

COG3416; Uncharacterized protein [Function unknown]

PRK07764
Location:535 → 969

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd00106
Location:62 → 414

KISc; Kinesin motor domain