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

    Gene ID: 338811, updated on 10-Dec-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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    See TAFA2 in Genome Data Viewer
    Location:
    12q14.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (61708273..62260034, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (61687128..62238817, complement)
    RS_2024_09 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: 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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    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 (21) 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)

    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_2024_08

    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
      UniProtKB/TrEMBL
      F8VWB2

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

      UniProtKB/Swiss-Prot
      B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0
      UniProtKB/TrEMBL
      F8VWB2

    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
      UniProtKB/TrEMBL
      F8VWB2

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

      UniProtKB/Swiss-Prot
      B3KVV4, Q4G0R9, Q68DK0, Q6GTX6, Q8N3H0
      UniProtKB/TrEMBL
      F8VWB2
    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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