COMMD4 COMM domain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COMMD4provided by HGNC
Official Full Name: COMM domain containing 4provided by HGNC
Primary source: HGNC:HGNC:26027
See related: Ensembl:ENSG00000140365 MIM:616701; AllianceGenome:HGNC:26027
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
Summary: Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 15.5), adrenal (RPKM 11.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (75336063..75343227)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (73206125..73213288)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (75628404..75635568)

Chromosome 15 - NC_000015.10 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

COMMD4 functions with the histone H2A-H2B dimer for the timely repair of DNA double-strand breaks.
Title: COMMD4 functions with the histone H2A-H2B dimer for the timely repair of DNA double-strand breaks.
Defining COMMD4 as an anti-cancer therapeutic target and prognostic factor in non-small cell lung cancer.
Title: Defining COMMD4 as an anti-cancer therapeutic target and prognostic factor in non-small cell lung cancer.

Submit: New GeneRIF Correction

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

D15S694E (e-PCR)
- UniSTS:151602

G10209 (e-PCR)
- UniSTS:55422

GDB:631813 (e-PCR)
- UniSTS:158430

A005A02 (e-PCR)
- UniSTS:59635

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: COMM domain-containing protein 4

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_001284377.2 → NP_001271306.1 COMM domain-containing protein 4 isoform 2

See identical proteins and their annotated locations for NP_001271306.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK000459

Consensus CDS

CCDS66834.1

UniProtKB/Swiss-Prot

Q9H0A8

Related

ENSP00000340867.6, ENST00000338995.10

Conserved Domains (1) summary

cl06336
Location:25 → 127

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
NM_001284378.2 → NP_001271307.1 COMM domain-containing protein 4 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AW117823, BI829264

Consensus CDS

CCDS66835.1

UniProtKB/Swiss-Prot

Q9H0A8

Related

ENSP00000457693.1, ENST00000567195.5

Conserved Domains (1) summary

cl06336
Location:25 → 101

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
NM_001284379.2 → NP_001271308.1 COMM domain-containing protein 4 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, contains multiple differences in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC068338, AW117823, BQ233598, DB524201, HY162014

Consensus CDS

CCDS73764.1

UniProtKB/TrEMBL

H3BQF2

Related

ENSP00000455750.1, ENST00000562789.5

Conserved Domains (1) summary

cl06336
Location:31 → 133

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
NM_001321844.2 → NP_001308773.1 COMM domain-containing protein 4 isoform 5

Status: VALIDATED

Source sequence(s)

AC068338

Conserved Domains (1) summary

cd04752
Location:1 → 174

Commd4; COMM_Domain containing protein 4. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...
NM_001321845.2 → NP_001308774.1 COMM domain-containing protein 4 isoform 6

Status: VALIDATED

Source sequence(s)

AC068338

Conserved Domains (1) summary

cl06336
Location:2 → 152

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
NM_001321846.2 → NP_001308775.1 COMM domain-containing protein 4 isoform 7

Status: VALIDATED

Source sequence(s)

AC068338

Conserved Domains (1) summary

cl06336
Location:26 → 105

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
NM_001321847.2 → NP_001308776.1 COMM domain-containing protein 4 isoform 8

Status: VALIDATED

Source sequence(s)

AC068338

Consensus CDS

CCDS81909.1

UniProtKB/TrEMBL

A0A0B4J287

Related

ENSP00000455249.1, ENST00000564815.5

Conserved Domains (1) summary

cl06336
Location:26 → 176

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
NM_001321848.2 → NP_001308777.1 COMM domain-containing protein 4 isoform 9

Status: VALIDATED

Source sequence(s)

AC068338

UniProtKB/TrEMBL

H3BM91

Conserved Domains (1) summary

cd04752
Location:31 → 204

Commd4; COMM_Domain containing protein 4. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...
NM_017828.5 → NP_060298.2 COMM domain-containing protein 4 isoform 1

See identical proteins and their annotated locations for NP_060298.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform (1).

Source sequence(s)

BC068998, BI829484

Consensus CDS

CCDS10277.1

UniProtKB/Swiss-Prot

B2RBN4, H3BUL2, Q7L637, Q9H0A8, Q9NX43

UniProtKB/TrEMBL

H3BM91

Related

ENSP00000267935.8, ENST00000267935.13

Conserved Domains (1) summary

cd04752
Location:25 → 198

Commd4; COMM_Domain containing protein 4. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...

RNA

NR_104312.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC068338, AL136872, BI829484
NR_104313.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (6) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AW117823, BU540913, DB524201

Related

ENST00000562610.5

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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

75336063..75343227

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011521739.3 → XP_011520041.1 COMM domain-containing protein 4 isoform X1

UniProtKB/TrEMBL

H3BM91

Conserved Domains (1) summary

cd04752
Location:55 → 228

Commd4; COMM_Domain containing protein 4. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...
XM_011521741.3 → XP_011520043.1 COMM domain-containing protein 4 isoform X5

Conserved Domains (1) summary

cl06336
Location:55 → 157

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
XM_011521740.2 → XP_011520042.1 COMM domain-containing protein 4 isoform X3

UniProtKB/TrEMBL

H3BM91

Conserved Domains (1) summary

cl06336
Location:56 → 206

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
XM_017022385.2 → XP_016877874.1 COMM domain-containing protein 4 isoform X6
XM_005254509.4 → XP_005254566.1 COMM domain-containing protein 4 isoform X2

UniProtKB/TrEMBL

H3BM91

Related

ENSP00000454283.1, ENST00000568301.1

Conserved Domains (1) summary

cd04752
Location:52 → 225

Commd4; COMM_Domain containing protein 4. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...
XM_005254510.4 → XP_005254567.1 COMM domain-containing protein 4 isoform X4

UniProtKB/TrEMBL

H3BM91

Conserved Domains (1) summary

cl06336
Location:53 → 203

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...