TAFA5 TAFA chemokine like family member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAFA5provided by HGNC
Official Full Name: TAFA chemokine like family member 5provided by HGNC
Primary source: HGNC:HGNC:21592
See related: Ensembl:ENSG00000219438 MIM:617499; AllianceGenome:HGNC:21592
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: TAFA-5; FAM19A5; UNQ5208; QLLK5208
Summary: This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Sep 2013]
Expression: Biased expression in brain (RPKM 13.2), endometrium (RPKM 3.4) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (48489553..48751932)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (48982039..49245797)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (48885365..49147744)

Chromosome 22 - NC_000022.11 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: 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?

Increased level of FAM19A5 is associated with cerebral small vessel disease and leads to a better outcome.
Title: Increased level of FAM19A5 is associated with cerebral small vessel disease and leads to a better outcome.
Assessment of progranulin and FAM19A5 protein blood levels in patients with metabolic syndrome.
Title: Assessment of progranulin and FAM19A5 protein blood levels in patients with metabolic syndrome.
FAM19A5/S1PR1 signaling pathway regulates the viability and proliferation of mantle cell lymphoma.
Title: FAM19A5/S1PR1 signaling pathway regulates the viability and proliferation of mantle cell lymphoma.
Circulating levels of FAM19A5 are inversely associated with subclinical atherosclerosis in non-alcoholic fatty liver disease.
Title: Circulating levels of FAM19A5 are inversely associated with subclinical atherosclerosis in non-alcoholic fatty liver disease.
Association of Serum FAM19A5 with Cognitive Impairment in Vascular Dementia.
Title: Association of Serum FAM19A5 with Cognitive Impairment in Vascular Dementia.
the results of the present study suggested that TAFA5 had significant effects on gastric cancer (GC) progression, suggesting that it may serve as a potential therapeutic target for GC therapy.
Title: TAFA5 promotes proliferation and migration in gastric cancer.
Serum FAM19A5 concentrations were significantly greater in patients with type 2 diabetes and positively correlate with parameters indicating central obesity and vascular disease.
Title: Association of serum FAM19A5 with metabolic and vascular risk factors in human subjects with or without type 2 diabetes.
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.

Submit: New GeneRIF Correction

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 association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. 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

RH103084 (e-PCR)
- UniSTS:97418

G63572 (e-PCR)
- UniSTS:140683

G62544 (e-PCR)
- UniSTS:139671

AL022479 (e-PCR)
- UniSTS:34735

stD22S34 (e-PCR)
- UniSTS:181703

D22S1161 (e-PCR)
- UniSTS:9725

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables receptor ligand activity	IBA Inferred from Biological aspect of Ancestor more info
enables receptor ligand activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of vascular associated smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular wound healing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: chemokine-like protein TAFA-5

Names: TAFA protein 5; family with sequence similarity 19 (chemokine (C-C motif)-like), member A5; family with sequence similarity 19 member A5, C-C motif chemokine like; protein FAM19A5

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_001082967.3 → NP_001076436.1 chemokine-like protein TAFA-5 isoform 1 precursor

See identical proteins and their annotated locations for NP_001076436.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).

Source sequence(s)

AF131851, DB541899, Z83837

Consensus CDS

CCDS46728.1

UniProtKB/Swiss-Prot

A6NII9, B0QZ13, B0QZ14, B0QZ15, O95902, Q5H9C4, Q6UWC9, Q7Z5A7, Q8IXR8

Related

ENSP00000383933.2, ENST00000402357.6

Conserved Domains (1) summary

pfam12020
Location:42 → 131

TAFA; TAFA family
NM_015381.7 → NP_056196.2 chemokine-like protein TAFA-5 isoform 2

See identical proteins and their annotated locations for NP_056196.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK125256, DB541899, Z83837

Consensus CDS

CCDS46729.1

UniProtKB/Swiss-Prot

Q7Z5A7

Related

ENSP00000351043.5, ENST00000358295.9

Conserved Domains (1) summary

pfam12020
Location:35 → 124

TAFA; TAFA family