XKR4 XK related 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: XKR4provided by HGNC
Official Full Name: XK related 4provided by HGNC
Primary source: HGNC:HGNC:29394
See related: Ensembl:ENSG00000206579 AllianceGenome:HGNC:29394
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: XRG4; hXKR4
Summary: Enables phospholipid scramblase activity. Involved in phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 2.2), colon (RPKM 0.4) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q12.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (55102028..55542054)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (55479588..55919328)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (56014588..56454613)

Chromosome 8 - NC_000008.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Caspase cleavage releases a nuclear protein fragment that stimulates phospholipid scrambling at the plasma membrane.
Title: Caspase cleavage releases a nuclear protein fragment that stimulates phospholipid scrambling at the plasma membrane.
Findings suggest that the SNPs in XKR4 and near FOXE1 are involved in the regulation of TSH levels.
Title: Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
Two SNPs located in genes coding for as yet uncharacterized proteins expressed in the cerebellum, XKR4 in 8q12.1, and FAM190A in 4q22.1 suggest association with association with attention deficit hyperactivity disorder. [XkR4]
Title: Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Clinical trial of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Applicability of a genetic signature for enhanced iloperidone efficacy in the treatment of schizophrenia.
Genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Association of the NPAS3 gene and five other loci with response to the antipsychotic iloperidone identified in a whole genome association study.

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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

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations. 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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Replication interactions

Interaction	Pubs
Knockdown of XK, Kell blood group complex subunit-related family, member 4 (XKR4) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	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

D8S2002 (e-PCR)
- UniSTS:75520

D8S2332 (e-PCR), detects polymorphism
- UniSTS:17412

SHGC-83208 (e-PCR)
- UniSTS:100877

STS-T23637 (e-PCR)
- UniSTS:64529

RH123537 (e-PCR)
- UniSTS:135958

SHGC-89410 (e-PCR)
- UniSTS:184860

RH121183 (e-PCR)
- UniSTS:134177

RH47520 (e-PCR)
- UniSTS:89695

SHGC-111478 (e-PCR)
- UniSTS:184678

SHGC-5783 (e-PCR)
- UniSTS:64924

G20264 (e-PCR)
- UniSTS:61863

A005A23 (e-PCR)
- UniSTS:61864

RH121648 (e-PCR)
- UniSTS:134330

D8S1997 (e-PCR)
- UniSTS:82618

RH98439 (e-PCR)
- UniSTS:92360

D8S165 (e-PCR), detects polymorphism
- UniSTS:7128

SHGC-153278 (e-PCR)
- UniSTS:177652

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phospholipid scramblase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process involved in development	IBA Inferred from Biological aspect of Ancestor more info
involved_in engulfment of apoptotic cell	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylserine exposure on apoptotic cell surface	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylserine exposure on apoptotic cell surface	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: XK-related protein 4

Names: X Kell blood group precursor-related family, member 4; X-linked Kx blood group related 4; XK, Kell blood group complex subunit-related family, member 4

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.