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    TMEM131 transmembrane protein 131 [ Homo sapiens (human) ]

    Gene ID: 23505, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM131provided by HGNC
    Official Full Name
    transmembrane protein 131provided by HGNC
    Primary source
    HGNC:HGNC:30366
    See related
    Ensembl:ENSG00000075568 MIM:615659; AllianceGenome:HGNC:30366
    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
    RW1; CC28; YR-23; PRO1048
    Summary
    Enables collagen binding activity. Involved in collagen biosynthetic process. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in colon (RPKM 14.6), lymph node (RPKM 13.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM131 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (97756336..97995948, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (98214553..98454161, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (98372799..98612411, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:98278969-98279610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16241 Neighboring gene U4 spliceosomal RNA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:98304422-98305621 Neighboring gene actin related protein 1B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:98307157-98307956 Neighboring gene chromosome 2 open reading frame 92 Neighboring gene RNA, U4 small nuclear 8, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98323640-98324200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98324201-98324759 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:98327684-98327873 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:98329847-98330820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98332052-98332567 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98332568-98333082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98340736-98341326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98356023-98356522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16244 Neighboring gene zeta chain of T cell receptor associated protein kinase 70 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98379903-98380684 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:98386577-98387090 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:98387091-98387603 Neighboring gene uncharacterized LOC124907861 Neighboring gene NANOG hESC enhancer GRCh37_chr2:98436135-98436668 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98503205-98503706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98503707-98504206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16246 Neighboring gene RNA, U7 small nuclear 96 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:98552619-98553120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16250 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:98612157-98612670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16251 Neighboring gene uncharacterized LOC124905591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16252 Neighboring gene MIR2 retrotransposon enhancer-blocking element Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11798 Neighboring gene uncharacterized LOC105373501 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:98663772-98664272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:98664273-98664773

    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 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. Use of mRNA differential display to study the action of lymphocyte subsets in vivo and application to a murine model of herpes simplex virus infection. Tscharke DC, et al. Immunol Lett, 2000 Oct 3. PMID 10996388
    2. Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners. Alves da Silva AF, et al. PLoS One, 2016. PMID 27100087, Free PMC Article
    3. Broadly conserved roles of TMEM131 family proteins in intracellular collagen assembly and secretory cargo trafficking. Zhang Z, et al. Sci Adv, 2020 Feb. PMID 32095531, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. Nagase T, et al. DNA Res, 1996 Oct 31. PMID 9039502
    5. The C-terminal cytoplasmic tail of hedgehog receptor Patched1 is a platform for E3 ubiquitin ligase complexes. Yamaki Y, et al. Mol Cell Biochem, 2016 Mar. PMID 26885983

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • KIAA0257

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in collagen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 131
    Names
    2610524E03Rik

    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_015348.2 → NP_056163.1  transmembrane protein 131 precursor

      See identical proteins and their annotated locations for NP_056163.1

      Status: VALIDATED

      Source sequence(s)
      AC092591, AK025852, AK098792, AU132630, BE327511, D87446
      Consensus CDS
      CCDS46368.1
      UniProtKB/Swiss-Prot
      Q92545
      Related
      ENSP00000186436.5, ENST00000186436.10
      Conserved Domains (1) summary
      cl13764
      Location:109 → 191
      ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      97756336..97995948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443844.1 → XP_047299800.1  transmembrane protein 131 isoform X6

    2. XM_047443843.1 → XP_047299799.1  transmembrane protein 131 isoform X4

    3. XM_011510869.2 → XP_011509171.1  transmembrane protein 131 isoform X5

      Conserved Domains (1) summary
      pfam12371
      Location:126 → 208
      TMEM131_like; Transmembrane protein 131-like

    4. XM_005263910.2 → XP_005263967.1  transmembrane protein 131 isoform X3

      Conserved Domains (1) summary
      pfam12371
      Location:126 → 208
      TMEM131_like; Transmembrane protein 131-like

    5. XM_005263909.2 → XP_005263966.1  transmembrane protein 131 isoform X2

      Conserved Domains (1) summary
      pfam12371
      Location:126 → 208
      TMEM131_like; Transmembrane protein 131-like

    6. XM_047443842.1 → XP_047299798.1  transmembrane protein 131 isoform X1

    7. XM_047443845.1 → XP_047299801.1  transmembrane protein 131 isoform X7

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791765.1 Reference GRCh38.p14 PATCHES

      Range
      682367..921979 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332916.1 → XP_054188891.1  transmembrane protein 131 isoform X6

    2. XM_054332914.1 → XP_054188889.1  transmembrane protein 131 isoform X4

    3. XM_054332915.1 → XP_054188890.1  transmembrane protein 131 isoform X5

    4. XM_054332913.1 → XP_054188888.1  transmembrane protein 131 isoform X3

    5. XM_054332912.1 → XP_054188887.1  transmembrane protein 131 isoform X2

    6. XM_054332911.1 → XP_054188886.1  transmembrane protein 131 isoform X1

    7. XM_054332917.1 → XP_054188892.1  transmembrane protein 131 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      98214553..98454161 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341219.1 → XP_054197194.1  transmembrane protein 131 isoform X6

    2. XM_054341217.1 → XP_054197192.1  transmembrane protein 131 isoform X4

    3. XM_054341218.1 → XP_054197193.1  transmembrane protein 131 isoform X5

    4. XM_054341216.1 → XP_054197191.1  transmembrane protein 131 isoform X3

    5. XM_054341215.1 → XP_054197190.1  transmembrane protein 131 isoform X2

    6. XM_054341214.1 → XP_054197189.1  transmembrane protein 131 isoform X1

    7. XM_054341220.1 → XP_054197195.1  transmembrane protein 131 isoform X7

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_018497.1: Suppressed sequence

      Description
      NM_018497.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92545.3 GenPept UniProtKB/Swiss-Prot:Q92545

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