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

Gene ID: 338811, updated on 3-Apr-2024

Summary

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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
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Genomic context

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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_000012.12Genomic Context describing neighboring genes Neighboring gene double homeobox 4 like 52 (pseudogene) Neighboring gene uncharacterized LOC105369793 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:62093041-62094240 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:62197979-62198625 Neighboring gene ribosomal protein L21 pseudogene 104 Neighboring gene keratin 8 pseudogene 19 Neighboring gene ribosomal protein S3 pseudogene 6 Neighboring gene uncharacterized LOC124902950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:62585946-62586479 Neighboring gene Sharpr-MPRA regulatory region 3206 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:62626842-62627014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:62655414-62655914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:62655915-62656415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4606 Neighboring gene Kruppel like factor 17 pseudogene 1 Neighboring gene microRNA 6125 Neighboring gene ubiquitin specific peptidase 15 Neighboring gene RNA, U6 small nuclear 595, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Admixture mapping identifies a quantitative trait locus associated with FEV1/FVC in the COPDGene Study. Parker MM, et al. Genet Epidemiol, 2014 Nov. PMID 25112515, Free PMC Article
  2. Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. Walford GA, et al. Diabetes, 2016 Oct. PMID 27416945, Free PMC Article
  3. TAFA2 Induces Skeletal (Stromal) Stem Cell Migration Through Activation of Rac1-p38 Signaling. Jafari A, et al. Stem Cells, 2019 Mar. PMID 30485583, Free PMC Article
  4. TAFA: a novel secreted family with conserved cysteine residues and restricted expression in the brain. Tom Tang Y, et al. Genomics, 2004 Apr. PMID 15028294
  5. Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. Cho MH, et al. Lancet Respir Med, 2014 Mar. PMID 24621683, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
EBI GWAS Catalog
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC42403, DKFZp761E1217, DKFZp781P0552

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)

  1. 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

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    61708273..62260034 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam12020
    Location:90 → 178
    TAFA; TAFA family

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

    UniProtKB/Swiss-Prot
    B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

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

    UniProtKB/Swiss-Prot
    B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

  4. 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

  5. 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

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    61687128..62238817 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    UniProtKB/Swiss-Prot
    B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0

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

    UniProtKB/Swiss-Prot
    B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N3H0.1 GenPept UniProtKB/Swiss-Prot:Q8N3H0

Gene LinkOut

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