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TMEM131 transmembrane protein 131 [ Homo sapiens (human) ]

Gene ID: 23505, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in colon (RPKM 14.6), lymph node (RPKM 13.4) and 25 other tissues See more
Orthologs
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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
  • 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 (51) 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)

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 
Process Evidence Code Pubs
involved_in collagen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
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 [email protected] 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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