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    TM9SF4 transmembrane 9 superfamily member 4 [ Homo sapiens (human) ]

    Gene ID: 9777, updated on 3-Dec-2024

    Summary

    Official Symbol
    TM9SF4provided by HGNC
    Official Full Name
    transmembrane 9 superfamily member 4provided by HGNC
    Primary source
    HGNC:HGNC:30797
    See related
    Ensembl:ENSG00000101337 MIM:617727; AllianceGenome:HGNC:30797
    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
    dJ836N17.2
    Summary
    Involved in several processes, including positive regulation of protein localization; regulation of intracellular pH; and vacuolar proton-transporting V-type ATPase complex assembly. Located in Golgi apparatus and early endosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 20.7), brain (RPKM 16.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TM9SF4 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32109714..32167256)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33834368..33891894)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30697517..30755059)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12774 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:30641518-30641717 Neighboring gene RNA, 5S ribosomal pseudogene 482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12776 Neighboring gene HCK proto-oncogene, Src family tyrosine kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30659475-30659975 Neighboring gene MPRA-validated peak4189 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30672211-30672710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30678826-30679621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30688747-30689248 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:30696834-30698033 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:30708941-30709834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17711 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30737033-30737924 Neighboring gene Sharpr-MPRA regulatory region 10464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30747197-30748088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30752983-30753483 Neighboring gene Sharpr-MPRA regulatory region 8915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30762883-30763484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:30763485-30764084 Neighboring gene ribosomal L24 domain containing 1 pseudogene 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:30768259-30768439 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30769860-30770360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30776057-30776872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12777 Neighboring gene testis specific protein Y-linked 26, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0255

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    transmembrane 9 superfamily member 4
    Names
    dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 4
    transmembrane 9 superfamily protein member 4
    tumor cannibalism associated protein 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_001363731.2NP_001350660.1  transmembrane 9 superfamily member 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL049539, BC021107, BM976438, D87444, DC377969
      Consensus CDS
      CCDS86943.1
      UniProtKB/TrEMBL
      A0A0C4DFM1, B4DKC1
      Related
      ENSP00000217315.5, ENST00000217315.9
      Conserved Domains (1) summary
      pfam02990
      Location:38582
      EMP70; Endomembrane protein 70
    2. NM_014742.4NP_055557.2  transmembrane 9 superfamily member 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_055557.2

      Status: VALIDATED

      Source sequence(s)
      BC021107, BM976438, D87444, DC381660
      Consensus CDS
      CCDS13196.2
      UniProtKB/Swiss-Prot
      B0QYT7, Q92544, Q9NUA3
      UniProtKB/TrEMBL
      A0A024QYR3, B4DKC1
      Related
      ENSP00000381104.2, ENST00000398022.7
      Conserved Domains (1) summary
      pfam02990
      Location:55599
      EMP70; Endomembrane protein 70

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      32109714..32167256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028155.2XP_016883644.1  transmembrane 9 superfamily member 4 isoform X2

      UniProtKB/TrEMBL
      B4DKC1
      Conserved Domains (1) summary
      pfam02990
      Location:38554
      EMP70; Endomembrane protein 70
    2. XM_017028154.2XP_016883643.1  transmembrane 9 superfamily member 4 isoform X1

      UniProtKB/TrEMBL
      B4DKC1
      Conserved Domains (1) summary
      pfam02990
      Location:55571
      EMP70; Endomembrane protein 70
    3. XM_017028156.2XP_016883645.1  transmembrane 9 superfamily member 4 isoform X3

      UniProtKB/TrEMBL
      B4DH88, B4DKC1
      Conserved Domains (1) summary
      pfam02990
      Location:1506
      EMP70; Endomembrane protein 70

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      33834368..33891894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324291.1XP_054180266.1  transmembrane 9 superfamily member 4 isoform X2

      UniProtKB/TrEMBL
      B4DKC1
    2. XM_054324290.1XP_054180265.1  transmembrane 9 superfamily member 4 isoform X1

      UniProtKB/TrEMBL
      B4DKC1
    3. XM_054324292.1XP_054180267.1  transmembrane 9 superfamily member 4 isoform X3

      UniProtKB/TrEMBL
      B4DH88, B4DKC1