CMTM2 CKLF like MARVEL transmembrane domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CMTM2provided by HGNC
Official Full Name: CKLF like MARVEL transmembrane domain containing 2provided by HGNC
Primary source: HGNC:HGNC:19173
See related: Ensembl:ENSG00000140932 MIM:607885; AllianceGenome:HGNC:19173
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: CKLFSF2
Summary: This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 259.5) See more
Orthologs: mouse all
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Genomic context

Location:: 16q21

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (66579463..66588275)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (72373758..72382570)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (66613366..66622178)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of Serum CMTM2 as a Potential Biomarker for HBV-Related Disorders.
Title: Identification of Serum CMTM2 as a Potential Biomarker for HBV-Related Disorders.
CMTM2 is downregulated in hepatocellular carcinoma tissues and correlated with the prognosis of hepatocellular carcinoma patients, suggesting a potential tumor suppressor role of CMTM2 in hepatocellular carcinoma progression.
Title: Downregulated CMTM2 Poses Potential Clinical Significance in Hepatocellular Carcinoma.
he expression of CMTM2 in the male reproductive system of the adult human exhibits cell- and region-specific patterns, which suggests that they may play an important role in spermatogenesis and sperm-egg fusion
Title: [Expression and localization of transmembrane protein CMTM2 in human testis and sperm].
Aberrant DNA methylation of CMTM2 gene is associated with colorectal cancer.
Title: Genome-wide analysis of aberrant DNA methylation for identification of potential biomarkers in colorectal cancer patients.
Intracellular CMTM2 can negatively regulate HIV-1 transcription, at least in part, by targeting the AP-1 and CREB pathways.
Title: Intracellular CMTM2 negatively regulates human immunodeficiency virus type-1 transcription through targeting the transcription factors AP-1 and CREB.
CKLFSF2 was specifically expressed in meiotic and post-meiotic germ cells, which were localized to the endoplasmic reticulum (ER) near the Golgi apparatus.
Title: Expression and localization of CKLFSF2 in human spermatogenesis.
novel evidence that the final intron/exon region of the CKLFSF1 gene contains a novel eukaryotic promoter capable of directing expression of the downstream gene, CKLFSF2
Title: A functional promoter region of the CKLFSF2 gene is located in the last intron/exon region of the upstream CKLFSF1 gene.
Bioinformatics based on CKLF2 cDNA and protein sequences in combination with experimental validation identified CKLFSF1-8 gene clusters, between the SCY and the TM4SF gene families. The 8 family members were cloned and characterized.
Title: Identification of eight genes encoding chemokine-like factor superfamily members 1-8 (CKLFSF1-8) by in silico cloning and experimental validation.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The CKLF-like MARVEL transmembrane domain-containing family 2 (CMTM2) inhibits HIV-1 Tat-induced AP-1 and CREB activation, which leads to suppression of HIV-1 provirus transcription	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 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
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: CKLF-like MARVEL transmembrane domain-containing protein 2

Names: chemokine-like factor superfamily 2; chemokine-like factor superfamily member 2

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)

NM_001199317.2 → NP_001186246.1 CKLF-like MARVEL transmembrane domain-containing protein 2 isoform 2

See identical proteins and their annotated locations for NP_001186246.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter, compared to isoform 1.

Source sequence(s)

AY862139

Consensus CDS

CCDS56001.1

UniProtKB/Swiss-Prot

Q8TAZ6

Related

ENSP00000368800.2, ENST00000379486.6

Conserved Domains (1) summary

cl24062
Location:70 → 139

Phage_holin_3_3; LydA holin phage, holin superfamily III
NM_144673.3 → NP_653274.1 CKLF-like MARVEL transmembrane domain-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_653274.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC025354

Consensus CDS

CCDS10814.1

UniProtKB/Swiss-Prot

Q5I2A4, Q8N7E5, Q8TAZ6

Related

ENSP00000268595.2, ENST00000268595.3

Conserved Domains (1) summary

pfam01284
Location:82 → 198

MARVEL; Membrane-associating domain