TAFA2 TAFA chemokine like family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAFA2provided by HGNC
Official Full Name: TAFA chemokine like family member 2provided by HGNC
Primary source: HGNC:HGNC:21589
See related: Ensembl:ENSG00000198673 MIM:617496; AllianceGenome:HGNC:21589
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: TAFA-2; FAM19A2
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, Jul 2008]
Expression: Biased expression in brain (RPKM 7.8), placenta (RPKM 1.2) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (61708273..62260034, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (61687128..62238817, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (62102054..62586554, complement)

Chromosome 12 - NC_000012.12 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?

interleukin-1beta was found as an upstream regulator of TAFA2 expression. Our findings demonstrate that TAFA2 enhances hMSC migration and recruitment and thus is relevant for regenerative medicine applications.
Title: TAFA2 Induces Skeletal (Stromal) Stem Cell Migration Through Activation of Rac1-p38 Signaling.
Data identified two, BCL2 and FAM19A2, novel loci and replicated known variants associated with insulin sensitivity. Further studies are needed to clarify the causal variant and function at the BCL2 and FAM19A2 loci.
Title: Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.
Variants of FAM19A2 (rs348644) are associated with forced expiratory volume in COPD.
Title: Admixture mapping identifies a quantitative trait locus associated with FEV1/FVC in the COPDGene Study.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

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 analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. 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

G64378 (e-PCR)
- UniSTS:163656

SHGC-110808 (e-PCR)
- UniSTS:168028

RH119739 (e-PCR)
- UniSTS:133215

RH120898 (e-PCR)
- UniSTS:133732

G64812 (e-PCR)
- UniSTS:164709

S0006 (e-PCR), detects polymorphism
- UniSTS:252006

D12S298 (e-PCR), detects polymorphism
- UniSTS:64406

SHGC-106492 (e-PCR)
- UniSTS:169882

SHGC-112175 (e-PCR)
- UniSTS:168862

D12S1726 (e-PCR), detects polymorphism
- UniSTS:72611

D12S2003 (e-PCR)
- UniSTS:31417

G64813 (e-PCR)
- UniSTS:164823

WI-3818 (e-PCR)
- UniSTS:17886

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables receptor ligand activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in visual learning	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: chemokine-like protein TAFA-2

Names: family with sequence similarity 19 (chemokine (C-C motif)-like), member A2; family with sequence similarity 19 member A2, C-C motif chemokine like; protein FAM19A2

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_178539.5 → NP_848634.1 chemokine-like protein TAFA-2 precursor

See identical proteins and their annotated locations for NP_848634.1

Status: REVIEWED

Source sequence(s)

AC020647, AC078789, AC137053

Consensus CDS

CCDS8962.1

UniProtKB/Swiss-Prot

B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

UniProtKB/TrEMBL

F8VWB2

Related

ENSP00000393987.3, ENST00000416284.8

Conserved Domains (1) summary

pfam12020
Location:41 → 129

TAFA; TAFA family

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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

61708273..62260034 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448962.2 → XP_024304730.1 chemokine-like protein TAFA-2 isoform X1

Conserved Domains (1) summary

pfam12020
Location:90 → 178

TAFA; TAFA family
XM_047428774.1 → XP_047284730.1 chemokine-like protein TAFA-2 isoform X2

UniProtKB/Swiss-Prot

B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

UniProtKB/TrEMBL

F8VWB2
XM_047428773.1 → XP_047284729.1 chemokine-like protein TAFA-2 isoform X2

UniProtKB/Swiss-Prot

B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

UniProtKB/TrEMBL

F8VWB2
XM_024448965.2 → XP_024304733.1 chemokine-like protein TAFA-2 isoform X2

UniProtKB/Swiss-Prot

B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

UniProtKB/TrEMBL

F8VWB2

Conserved Domains (1) summary

pfam12020
Location:41 → 129

TAFA; TAFA family
XM_024448966.2 → XP_024304734.1 chemokine-like protein TAFA-2 isoform X2

UniProtKB/Swiss-Prot

B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

UniProtKB/TrEMBL

F8VWB2

Related

ENSP00000447305.1, ENST00000551619.5

Conserved Domains (1) summary

pfam12020
Location:41 → 129

TAFA; TAFA family

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

61687128..62238817 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371931.1 → XP_054227906.1 chemokine-like protein TAFA-2 isoform X1
XM_054371933.1 → XP_054227908.1 chemokine-like protein TAFA-2 isoform X2

UniProtKB/Swiss-Prot

B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

UniProtKB/TrEMBL

F8VWB2
XM_054371932.1 → XP_054227907.1 chemokine-like protein TAFA-2 isoform X2

UniProtKB/Swiss-Prot

B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

UniProtKB/TrEMBL

F8VWB2