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

Gene ID: 112616, updated on 11-Apr-2024

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; AllianceGenome:HGNC:19178
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
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Genomic context

Location:
3p22.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (32391853..32455528)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (32388830..32452466)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (32433345..32497020)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CKLF like MARVEL transmembrane domain containing 8 Neighboring gene keratin 18 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19633 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32400389-32401068 Neighboring gene uncharacterized LOC124909361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32442473-32443342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32443343-32444210 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:32448051-32448552 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:32461132-32462331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32478107-32478788 Neighboring gene Sharpr-MPRA regulatory region 14110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32495222-32495722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19637 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32501507-32502217 Neighboring gene Sharpr-MPRA regulatory region 13101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14174 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

EBI 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.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ30992

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in B-1a B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

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

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_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
    Q5VLK1, Q96FZ5
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    32391853..32455528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    32388830..32452466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345104.1XP_054201079.1  CKLF-like MARVEL transmembrane domain-containing protein 7 isoform X1

    UniProtKB/TrEMBL
    F8WDZ3