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

    Gene ID: 83648, updated on 19-Sep-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FAM167A in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11421476..11475908, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (8264329..8319261)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11278985..11324262, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene FAM167A antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 293, pseudogene Neighboring gene RNA, U6 small nuclear 1084, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11264728-11265248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11265249-11265768 Neighboring gene Sharpr-MPRA regulatory region 7548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11273999-11274500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11274501-11275000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11282034-11282577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11282578-11283120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11293411-11293930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11293931-11294450 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11295726-11295929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11300354-11300945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11309217-11309792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11309793-11310368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11310369-11310944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11325425-11326194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27015 Neighboring gene CRISPRi-FlowFISH-validated BLK regulatory element GRCh37_chr8:11349255-11350515 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11351829-11353028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27022 Neighboring gene BLK proto-oncogene, Src family tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27025 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11395673-11395837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11407118-11408317 Neighboring gene uncharacterized LOC105379241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18935 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:11424419-11425618 Neighboring gene long intergenic non-protein coding RNA 208

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    protein FAM167A
    Names
    disordered autoimmunity 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_053279.3NP_444509.2  protein FAM167A

      See identical proteins and their annotated locations for NP_444509.2

      Status: VALIDATED

      Source sequence(s)
      AJ301564, AL522457
      Consensus CDS
      CCDS5981.1
      UniProtKB/Swiss-Prot
      A8K3T9, Q3SXY1, Q3SXY3, Q8N3M3, Q96KS9, Q9NSR0
      Related
      ENSP00000284486.4, ENST00000284486.9
      Conserved Domains (1) summary
      pfam11652
      Location:130214
      FAM167; FAM167

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      11421476..11475908 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543840.4XP_011542142.1  protein FAM167A isoform X1

      See identical proteins and their annotated locations for XP_011542142.1

      UniProtKB/Swiss-Prot
      A8K3T9, Q3SXY1, Q3SXY3, Q8N3M3, Q96KS9, Q9NSR0
      Conserved Domains (1) summary
      pfam11652
      Location:130214
      FAM167; FAM167
    2. XM_011543838.4XP_011542140.1  protein FAM167A isoform X1

      See identical proteins and their annotated locations for XP_011542140.1

      UniProtKB/Swiss-Prot
      A8K3T9, Q3SXY1, Q3SXY3, Q8N3M3, Q96KS9, Q9NSR0
      Related
      ENSP00000432232.1, ENST00000534308.1
      Conserved Domains (1) summary
      pfam11652
      Location:130214
      FAM167; FAM167
    3. XM_024447292.2XP_024303060.1  protein FAM167A isoform X1

      UniProtKB/Swiss-Prot
      A8K3T9, Q3SXY1, Q3SXY3, Q8N3M3, Q96KS9, Q9NSR0
      Conserved Domains (1) summary
      pfam11652
      Location:130214
      FAM167; FAM167
    4. XM_005272398.6XP_005272455.1  protein FAM167A isoform X1

      See identical proteins and their annotated locations for XP_005272455.1

      UniProtKB/Swiss-Prot
      A8K3T9, Q3SXY1, Q3SXY3, Q8N3M3, Q96KS9, Q9NSR0
      Conserved Domains (1) summary
      pfam11652
      Location:130214
      FAM167; FAM167
    5. XM_011543837.2XP_011542139.1  protein FAM167A isoform X1

      See identical proteins and their annotated locations for XP_011542139.1

      UniProtKB/Swiss-Prot
      A8K3T9, Q3SXY1, Q3SXY3, Q8N3M3, Q96KS9, Q9NSR0
      Related
      ENSP00000436655.1, ENST00000528897.1
      Conserved Domains (1) summary
      pfam11652
      Location:130214
      FAM167; FAM167

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      1872181..1927098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332267.1XP_054188242.1  protein FAM167A isoform X1

      UniProtKB/TrEMBL
      A0AAG2UYC2
    2. XM_054332265.1XP_054188240.1  protein FAM167A isoform X1

      UniProtKB/TrEMBL
      A0AAG2UYC2
    3. XM_054332268.1XP_054188243.1  protein FAM167A isoform X1

      UniProtKB/TrEMBL
      A0AAG2UYC2
    4. XM_054332266.1XP_054188241.1  protein FAM167A isoform X1

      UniProtKB/TrEMBL
      A0AAG2UYC2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      8264329..8319261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361327.1XP_054217302.1  protein FAM167A isoform X1

    2. XM_054361325.1XP_054217300.1  protein FAM167A isoform X1

    3. XM_054361326.1XP_054217301.1  protein FAM167A isoform X1

    4. XM_054361324.1XP_054217299.1  protein FAM167A isoform X1