KIF22 kinesin family member 22 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIF22provided by HGNC
Official Full Name: kinesin family member 22provided by HGNC
Primary source: HGNC:HGNC:6391
See related: Ensembl:ENSG00000079616 MIM:603213; AllianceGenome:HGNC:6391
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KID; OBP; KNSL4; OBP-1; OBP-2; SEMDJL2; A-328A3.2
Summary: The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression: Broad expression in bone marrow (RPKM 24.9), testis (RPKM 13.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (29790751..29805385)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (30072908..30087551)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (29802072..29816706)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

KIF22 promotes the proliferation and glycolysis of melanoma by activating EGFR/STAT3 signaling.
Title: KIF22 promotes the proliferation and glycolysis of melanoma by activating EGFR/STAT3 signaling.
KIF22 Promotes Development of Pancreatic Cancer by Regulating the MEK/ERK/P21 Signaling Axis.
Title: KIF22 Promotes Development of Pancreatic Cancer by Regulating the MEK/ERK/P21 Signaling Axis.
Suppression of KIF22 Inhibits Cell Proliferation and Xenograft Tumor Growth in Tongue Squamous Cell Carcinoma.
Title: Suppression of KIF22 Inhibits Cell Proliferation and Xenograft Tumor Growth in Tongue Squamous Cell Carcinoma.
Suppression of KIF22 Inhibits Cell Proliferation and Xenograft Tumor Growth in Colon Cancer.
Title: Suppression of KIF22 Inhibits Cell Proliferation and Xenograft Tumor Growth in Colon Cancer.
KIF22-dependent regulation of microtubule dynamics led to delayed EGFR internalization, enhanced EGFR signaling, and coordination of CAR dynamics at cell-cell junctions resulting in lung cancer.
Title: KIF22 coordinates CAR and EGFR dynamics to promote cancer cell proliferation.
We identified two candidate mutations in COL1A2 and MATN1, which might be affected by the main known mutation in B3GALT6. Our finding replicated a previously identified mutation in KIF22 to be potentially associated with spondyloepimetaphyseal dysplasia with joint laxity. We also show that our identified candidate mutation genes, COL1A2, MATN1 and KIF22, are in a direct biological interaction with B3GALT6.
Title: Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
Chromokinesin Kid and kinetochore kinesin CENP-E differentially support chromosome congression without end-on attachment to microtubules.
Title: Chromokinesin Kid and kinetochore kinesin CENP-E differentially support chromosome congression without end-on attachment to microtubules.
we conclude that inhibition of KIF22 suppresses cancer cell proliferation by delaying mitotic exit through the transcriptional upregulation of CDC25C.
Title: Inhibition of KIF22 suppresses cancer cell proliferation by delaying mitotic exit through upregulating CDC25C expression.
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity
Title: Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Title: Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spondyloepimetaphyseal dysplasia with multiple dislocations MedGen: C1863732 OMIM: 603546 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Seventy-five genetic loci influencing the human red blood cell. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	KID is hypothesized to be a human breast cancer variant of Rev/Rex effector binding protein (REBP), a nuclear protein that binds HIV-1 Rev, co-localizes with Rev in the nucleoplasm and nuclear periphery of cells, and enhances Rev-dependent mRNA expression	PubMed
Vpr	vpr	HIV-1 Vpr upregulates KIF22 in HeLa cells within 12 hours of exposure	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13S1104 (e-PCR)
- UniSTS:153633

D16S383 (e-PCR)
- UniSTS:148586

D16S321 (e-PCR)
- UniSTS:147085

D16S383 (e-PCR)
- UniSTS:149697

STS-L29096 (e-PCR)
- UniSTS:18896

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
part_of kinesin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in kinetochore	TAS Traceable Author Statement more info	PubMed
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: kinesin-like protein KIF22

Names: kinesin-like DNA-binding protein pseudogene; kinesin-like protein 4; oriP binding protein; origin of plasmid DNA replication-binding 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.

Genomic

NG_032055.1 RefSeqGene

Range

5039..19672

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256269.2 → NP_001243198.1 kinesin-like protein KIF22 isoform 2

See identical proteins and their annotated locations for NP_001243198.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional exon in the 5' region, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus than isoform 1. Variants 2 and 3 encode the same isoform.

Source sequence(s)

AK223431, AK316389, BC028155, DC370294

Consensus CDS

CCDS58444.1

UniProtKB/TrEMBL

B7Z9T5

Related

ENSP00000509977.1, ENST00000690258.1

Conserved Domains (3) summary

smart00129
Location:2 → 307

KISc; Kinesin motor, catalytic domain. ATPase

cd01376
Location:1 → 298

KISc_KID_like; Kinesin motor domain, KIF22/Kid-like subgroup

pfam12836
Location:528 → 578

HHH_3; Helix-hairpin-helix motif
NM_001256270.1 → NP_001243199.1 kinesin-like protein KIF22 isoform 2

See identical proteins and their annotated locations for NP_001243199.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus than isoform 1. Variants 2 and 3 encode the same isoform.

Source sequence(s)

AC009133, AK223431, AK316050, BC004352, BC028155

Consensus CDS

CCDS58444.1

UniProtKB/TrEMBL

B7Z9T5

Related

ENSP00000454957.1, ENST00000561482.6

Conserved Domains (3) summary

smart00129
Location:2 → 307

KISc; Kinesin motor, catalytic domain. ATPase

cd01376
Location:1 → 298

KISc_KID_like; Kinesin motor domain, KIF22/Kid-like subgroup

pfam12836
Location:528 → 578

HHH_3; Helix-hairpin-helix motif
NM_007317.3 → NP_015556.1 kinesin-like protein KIF22 isoform 1

See identical proteins and their annotated locations for NP_015556.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC009133

Consensus CDS

CCDS10653.1

UniProtKB/Swiss-Prot

B2R5M0, B7Z265, O60845, O94814, Q14807, Q53F58, Q9BT46

UniProtKB/TrEMBL

H3BRB3

Related

ENSP00000160827.5, ENST00000160827.9

Conserved Domains (2) summary

cd01376
Location:43 → 366

KISc_KID_like; Kinesin motor domain, KIF22/Kid-like subgroup

cl28530
Location:596 → 646

ComEA; DNA uptake protein ComE and related DNA-binding proteins [Replication, recombination and repair]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

29790751..29805385

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047434094.1 → XP_047290050.1 kinesin-like protein KIF22 isoform X1

UniProtKB/TrEMBL

A0A8I5QL17

Related

ENSP00000509109.1, ENST00000689089.1
XM_047434095.1 → XP_047290051.1 kinesin-like protein KIF22 isoform X2

Related

ENSP00000509077.1, ENST00000685401.1

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

30072908..30087551

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054380309.1 → XP_054236284.1 kinesin-like protein KIF22 isoform X1

UniProtKB/TrEMBL

A0A8I5QL17
XM_054380310.1 → XP_054236285.1 kinesin-like protein KIF22 isoform X2