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CMTM8 CKLF like MARVEL transmembrane domain containing 8 [ Homo sapiens (human) ]

Gene ID: 152189, updated on 22-Sep-2022

Summary

Official Symbol
CMTM8provided by HGNC
Official Full Name
CKLF like MARVEL transmembrane domain containing 8provided by HGNC
Primary source
HGNC:HGNC:19179
See related
Ensembl:ENSG00000170293 MIM:607891; AllianceGenome:HGNC:19179
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
CKLFSF8; CKLFSF8-V2
Summary
This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the 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, and plays a role in regulating the migration of tumor cells. The encoded protein is thought to function as a a negative regulator of epidermal growth factor-induced signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
Expression
Broad expression in liver (RPKM 5.0), lung (RPKM 5.0) and 23 other tissues See more
Orthologs
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Genomic context

See CMTM8 in Genome Data Viewer
Location:
3p22.3
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (32238192..32370321)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (32235757..32367445)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (32280172..32411813)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene ribosomal protein SA pseudogene 11 Neighboring gene keratin 18 pseudogene 15 Neighboring gene uncharacterized LOC124909361 Neighboring gene CKLF like MARVEL transmembrane domain containing 7 Neighboring gene Sharpr-MPRA regulatory region 14110

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
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
EBI GWAS Catalog
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
EBI GWAS Catalog
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
EBI GWAS Catalog
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
enables structural constituent of myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in myelination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
CKLF-like MARVEL transmembrane domain-containing protein 8
Names
chemokine-like factor superfamily member 8

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_001320308.2NP_001307237.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 2. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AY598783
    Consensus CDS
    CCDS82753.1
    UniProtKB/Swiss-Prot
    Q8IZV2
    Related
    ENSP00000412934.2, ENST00000458535.6
  2. NM_178868.5NP_849199.2  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform 1

    See identical proteins and their annotated locations for NP_849199.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF474370, AY598783
    Consensus CDS
    CCDS2652.1
    UniProtKB/Swiss-Prot
    Q8IW01, Q8IZV2
    Related
    ENSP00000307741.3, ENST00000307526.4
    Conserved Domains (1) summary
    pfam01284
    Location:36162
    MARVEL; Membrane-associating domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    32238192..32370321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533416.4XP_011531718.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X1

    Conserved Domains (1) summary
    pfam01284
    Location:72185
    MARVEL; Membrane-associating domain
  2. XM_017005779.2XP_016861268.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X3

  3. XM_047447513.1XP_047303469.1  CKLF-like MARVEL transmembrane domain-containing protein 8 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    32235757..32367445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)