CCDC12 coiled-coil domain containing 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC12provided by HGNC
Official Full Name: coiled-coil domain containing 12provided by HGNC
Primary source: HGNC:HGNC:28332
See related: Ensembl:ENSG00000160799 AllianceGenome:HGNC:28332
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: Predicted to be located in nucleoplasm. Predicted to be part of U2-type spliceosomal complex and post-mRNA release spliceosomal complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 3.1), spleen (RPKM 2.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (46921730..46981994, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (46938112..46998350, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (46963220..47023484, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

It was suggested that rs1076394 served as an expression Quantitative Trait Loci (eQTL) for gene CCDC12 and NME6, while NME6's expression was obviously higher in colorectal cancer tissues.
Title: Identification of a Potential Regulatory Variant for Colorectal Cancer Risk Mapping to 3p21.31 in Chinese Population.
CCDC12 is a new participant that promotes early erythroid differentiation.
Title: Isolation of siRNA target by biotinylated siRNA reveals that human CCDC12 promotes early erythroid differentiation.

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

G54127 (e-PCR)
- UniSTS:109364

STS-N26202 (e-PCR)
- UniSTS:9686

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
part_of U2-type spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of post-mRNA release spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 12

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_001277074.2 → NP_001264003.1 coiled-coil domain-containing protein 12 isoform 2

See identical proteins and their annotated locations for NP_001264003.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate internal promoter and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC094020, AC109583

Consensus CDS

CCDS2748.3

UniProtKB/Swiss-Prot

Q8N8I4, Q8WUD4

Related

ENSP00000508011.1, ENST00000683445.1

Conserved Domains (1) summary

pfam08315
Location:11 → 143

cwf18; cwf18 pre-mRNA splicing factor
NM_144716.6 → NP_653317.2 coiled-coil domain-containing protein 12 isoform 1

See identical proteins and their annotated locations for NP_653317.2

Status: VALIDATED

Description

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

Source sequence(s)

AC094020, AC109583

Consensus CDS

CCDS63612.1

UniProtKB/TrEMBL

A0A024R2U3, A0A9K3Y8B6, J3KR35

Related

ENSP00000292314.2, ENST00000292314.6

Conserved Domains (1) summary

pfam08315
Location:24 → 156

cwf18; cwf18 pre-mRNA splicing factor

RNA

NR_102269.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a supported ORF that is likely to result in a protein product.

Source sequence(s)

AC094020, BM676030, BM803652, DA952452