CCDC137 coiled-coil domain containing 137 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC137provided by HGNC
Official Full Name: coiled-coil domain containing 137provided by HGNC
Primary source: HGNC:HGNC:33451
See related: Ensembl:ENSG00000185298 MIM:614271; AllianceGenome:HGNC:33451
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
Also known as: RaRF
Summary: Enables RNA binding activity. Located in chromosome and fibrillar center. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in skin (RPKM 7.7), lymph node (RPKM 6.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (81666737..81673899)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (82583649..82590807)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (79633767..79640929)

Chromosome 17 - NC_000017.11 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?

CDK12 orchestrates super-enhancer-associated CCDC137 transcription to direct hepatic metastasis in colorectal cancer.
Title: CDK12 orchestrates super-enhancer-associated CCDC137 transcription to direct hepatic metastasis in colorectal cancer.
Prognostic Significance of CCDC137 Expression and Its Association with Immune Infiltration in Hepatocellular Carcinoma.
Title: Prognostic Significance of CCDC137 Expression and Its Association with Immune Infiltration in Hepatocellular Carcinoma.
HIV-1 Vpr induces cell cycle arrest and enhances viral gene expression by depleting CCDC137.
Title: HIV-1 Vpr induces cell cycle arrest and enhances viral gene expression by depleting CCDC137.
These data suggest that RaRF sequesters ERRalpha in the nucleolus through a specific interaction, thereby inhibiting its transcriptional activity.
Title: Negative regulation of ERRα by a novel nucleolar protein.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102453 (e-PCR)
- UniSTS:96787

SHGC-154444 (e-PCR)
- UniSTS:178110

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 137

Names: hepatocellular carcinoma related protein 2; retinoic acid resistance factor

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_199287.3 → NP_954981.1 coiled-coil domain-containing protein 137

See identical proteins and their annotated locations for NP_954981.1

Status: VALIDATED

Source sequence(s)

AC139530

Consensus CDS

CCDS42400.1

UniProtKB/Swiss-Prot

Q6PK04

UniProtKB/TrEMBL

I3L0U5

Related

ENSP00000329360.8, ENST00000329214.13

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

81666737..81673899

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435910.1 → XP_047291866.1 coiled-coil domain-containing protein 137 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

82583649..82590807

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315936.1 → XP_054171911.1 coiled-coil domain-containing protein 137 isoform X2
XM_054315937.1 → XP_054171912.1 coiled-coil domain-containing protein 137 isoform X3