FAM167A family with sequence similarity 167 member A [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM167Aprovided by HGNC
Official Full Name: family with sequence similarity 167 member Aprovided by HGNC
Primary source: HGNC:HGNC:15549
See related: Ensembl:ENSG00000154319 MIM:610085; AllianceGenome:HGNC:15549
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: D8S265; C8orf13; DIORA-1
Expression: Biased expression in thyroid (RPKM 28.9), brain (RPKM 11.5) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p23.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (11421476..11475908, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (8264329..8319261)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (11278985..11324262, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

FAM167A is a key molecule to induce BCR-ABL-independent TKI resistance in CML via noncanonical NF-kappaB signaling activation.
Title: FAM167A is a key molecule to induce BCR-ABL-independent TKI resistance in CML via noncanonical NF-κB signaling activation.
Our findings indicate a role for DIORA-1 in distinct B cell subsets, and suggest that DIORA-1 may contribute to the inflammatory process and disease pathogenesis in primary Sjogren's syndrome through B cell involvement
Title: Clinical associations and expression pattern of the autoimmunity susceptibility factor DIORA-1 in patients with primary Sjögren's syndrome.
FAM167A gene is associated with several rheumatic diseases and encodes a novel disordered protein, DIORA-1, which is expressed highly in the lung, consistent with a potential role in disease pathogenesis
Title: The rheumatic disease-associated FAM167A-BLK locus encodes DIORA-1, a novel disordered protein expressed highly in bronchial epithelium and alveolar macrophages.
Polymorphisms of FAM167A-BLK region confer risk of developing an autoimmune thyroid disease.
Title: Polymorphisms of FAM167A-BLK Region Confer Risk of Autoimmune Thyroid Disease.
current meta-analysis suggested that FAM167A-BLK rs2736340 polymorphism is associated with several autoimmune diseases
Title: Association of FAM167A-BLK rs2736340 Polymorphism with Susceptibility to Autoimmune Diseases: A Meta-Analysis.
SNPs in TNFSF4 and FAM167A-BLK may be involved in asthma and allergic rhinitis gene risk in the Han Chinese cohort.
Title: Genetic risk of TNFSF4 and FAM167A-BLK polymorphisms in children with asthma and allergic rhinitis in a Han Chinese population.
the FAM167A-BLK polymorphisms were associated with Chinese PM/DM patients or these patients with ILD, indicating that PM/DM might share common gene with other autoimmune diseases.
Title: Single nucleotide polymorphisms in the FAM167A-BLK gene are associated with polymyositis/dermatomyositis in the Han Chinese population.
Results support previous findings that vaiants in the RHOB and FAM167A-BLK genes may be associated with susceptibility to systemic sclerosis.
Title: Possible single-nucleotide polymorphism loci associated with systemic sclerosis susceptibility: a genetic association study in a Chinese Han population.
The observations suggested that C8orf13-BLK, in combination with STAT4, plays a pivotal role in creating genetic susceptibility to polymyositis/dermatomyositis in Japanese individuals.
Title: Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility.
Strong correlations have been observed between TNFSF4, TNFAIP3 and FAM167A-BLK polymorphisms with primary Sjogren's syndrome in Han Chinese.[FAM167A-BLK]
Title: Association studies of TNFSF4, TNFAIP3 and FAM167A-BLK polymorphisms with primary Sjogren's syndrome in Han Chinese.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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
A genome-wide association study identifies three new risk loci for Kawasaki disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32753 (e-PCR)
- UniSTS:117334

STS-W67504 (e-PCR)
- UniSTS:26735

SGC33822 (e-PCR)
- UniSTS:18326

D8S265 (e-PCR), detects polymorphism
- UniSTS:9408

A009P42 (e-PCR)
- UniSTS:62665

RH66428 (e-PCR)
- UniSTS:72651

Clone Names

MGC120649, MGC120650, MGC120651, DKFZp761G151

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: protein FAM167A

Names: disordered autoimmunity 1

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.