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CMTM7 CKLF like MARVEL transmembrane domain containing 7 [ Homo sapiens (human) ]

Gene ID: 112616, updated on 7-Jun-2020

Summary

Official Symbol
CMTM7provided by HGNC
Official Full Name
CKLF like MARVEL transmembrane domain containing 7provided by HGNC
Primary source
HGNC:HGNC:19178
See related
Ensembl:ENSG00000153551 MIM:607890
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
CKLFSF7
Summary
This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor that regulates G1/S transition in the cell cycle, and epidermal growth factor receptor/protein kinase B signaling during tumor pathogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
Expression
Broad expression in lymph node (RPKM 7.5), spleen (RPKM 7.1) and 25 other tissues See more
Orthologs

Genomic context

See CMTM7 in Genome Data Viewer
Location:
3p22.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (32391825..32455528)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (32433163..32496333)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 11 Neighboring gene CKLF like MARVEL transmembrane domain containing 8 Neighboring gene keratin 18 pseudogene 15 Neighboring gene CKLF like MARVEL transmembrane domain containing 6 Neighboring gene microRNA 548ay

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

NHGRI GWAS Catalog

Description
Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30992

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
B-1a B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
chemotaxis IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
CKLF-like MARVEL transmembrane domain-containing protein 7
Names
chemokine-like factor super family 7
chemokine-like factor super family member 7 variant 2
chemokine-like factor superfamily 7
chemokine-like factor superfamily member 7

NCBI Reference Sequences (RefSeq)

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_138410.4NP_612419.1  CKLF-like MARVEL transmembrane domain-containing protein 7 isoform a

    See identical proteins and their annotated locations for NP_612419.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC098475, AF479263, CD366110
    Consensus CDS
    CCDS33730.1
    UniProtKB/Swiss-Prot
    Q96FZ5
    UniProtKB/TrEMBL
    A0A024R2L3
    Related
    ENSP00000335605.5, ENST00000334983.10
    Conserved Domains (1) summary
    pfam01284
    Location:40160
    MARVEL; Membrane-associating domain
  2. NM_181472.3NP_852137.1  CKLF-like MARVEL transmembrane domain-containing protein 7 isoform b

    See identical proteins and their annotated locations for NP_852137.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AF479263, AK308878
    Consensus CDS
    CCDS33731.1
    UniProtKB/Swiss-Prot
    Q96FZ5
    Related
    ENSP00000283621.5, ENST00000349718.8
    Conserved Domains (1) summary
    pfam01284
    Location:40122
    MARVEL; Membrane-associating domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    32391825..32455528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005646.1XP_016861135.1  CKLF-like MARVEL transmembrane domain-containing protein 7 isoform X2

  2. XM_011533319.2XP_011531621.1  CKLF-like MARVEL transmembrane domain-containing protein 7 isoform X1

    UniProtKB/TrEMBL
    F8WDZ3
    Related
    ENSP00000414480.2, ENST00000454304.6
    Conserved Domains (1) summary
    pfam01284
    Location:40133
    MARVEL; Membrane-associating domain
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