C12orf43 chromosome 12 open reading frame 43 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C12orf43provided by HGNC
Official Full Name: chromosome 12 open reading frame 43provided by HGNC
Primary source: HGNC:HGNC:25719
See related: Ensembl:ENSG00000157895 AllianceGenome:HGNC:25719
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: Custos
Summary: Predicted to be involved in Spemann organizer formation and negative regulation of Wnt signaling pathway. Predicted to be located in nuclear envelope. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in kidney (RPKM 7.1), small intestine (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 12q24.31

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (121000486..121016487, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (120990099..121006081, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (121438289..121454290, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of a single-nucleotide polymorphism in C12orf43 region with the risk of coronary artery disease.
Title: Association of a single-nucleotide polymorphism in C12orf43 region with the risk of coronary artery disease.
Study provides evidence that C12orf43/rs2258287 was associated with the risk of coronary artery disease in the studied Pakistani cohort.
Title: A Single-Nucleotide Polymorphism in C12orf43 Region is Associated with the Risk of Coronary Artery Disease in a Pakistani Cohort.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: New susceptibility locus for coronary artery disease on chromosome 3q22.3.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&#x003b1; as a master regulator of plasma protein fucosylation. EBI GWAS Catalog EBI GWAS CatalogPubMed
New susceptibility locus for coronary artery disease on chromosome 3q22.3. EBI GWAS Catalog EBI GWAS CatalogPubMed
New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in Spemann organizer formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: protein CUSTOS

Names: uncharacterized protein C12orf43

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001286191.2 → NP_001273120.1 protein CUSTOS isoform a

See identical proteins and their annotated locations for NP_001273120.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC079602, AK301566, AK307971, BC014661, BP201132

Consensus CDS

CCDS76613.1

UniProtKB/TrEMBL

B4DWJ9, F5H7W8

Related

ENSP00000442224.2, ENST00000537817.5
NM_001286192.2 → NP_001273121.1 protein CUSTOS isoform b

See identical proteins and their annotated locations for NP_001273121.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses alternate splice sites at two coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AC079602, AK225162, AK307971, BC014661, BP201132

UniProtKB/TrEMBL

B4DWJ9
NM_001286195.2 → NP_001273124.1 protein CUSTOS isoform d

See identical proteins and their annotated locations for NP_001273124.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses alternate splice sites at three coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AC079602, AK301566, BC014661

Consensus CDS

CCDS66487.1

UniProtKB/TrEMBL

B4DWJ9, G5EA44

Related

ENSP00000437803.1, ENST00000539736.5
NM_001286196.2 → NP_001273125.1 protein CUSTOS isoform e

Status: VALIDATED

Description

Transcript Variant: This variant (5) uses alternate splice sites at two coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is shorter than isoform a.

Source sequence(s)

AC079602, AK301566, AK307971, BC014661, BP201132, DC297725

UniProtKB/TrEMBL

B4DWJ9
NM_001286197.2 → NP_001273126.1 protein CUSTOS isoform f

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks an exon and uses alternate splice sites at two coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (f) is shorter than isoform a.

Source sequence(s)

AC079602, AK307971, BC014661, BP201132, BP343829

UniProtKB/TrEMBL

F5H8B7

Related

ENSP00000442041.2, ENST00000538296.5
NM_001286198.2 → NP_001273127.1 protein CUSTOS isoform g

Status: VALIDATED

Description

Transcript Variant: This variant (7) contains an alternate exon and uses alternate splice sites at two coding exons, compared to variant 1. It initiates translation at an alternate start codon. The encoded isoform (g) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC079602, AK225162, AK299170, AK307971, BC014661, BP201132

Consensus CDS

CCDS66486.1

UniProtKB/TrEMBL

B4DRA4, E7ENF1

Related

ENSP00000409788.3, ENST00000445832.7
NM_022895.3 → NP_075046.1 protein CUSTOS isoform c

See identical proteins and their annotated locations for NP_075046.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site at a coding exon, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AC079602, AK022510, AK301566, AK307971, BC014661, BP201132

Consensus CDS

CCDS9210.1

UniProtKB/Swiss-Prot

Q53HF0, Q96C57, Q9H9Z7

UniProtKB/TrEMBL

B4DWJ9

Related

ENSP00000288757.5, ENST00000288757.7

RNA

NR_104409.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (8) uses alternate splice sites at three internal exons, 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)

AC079602, AK301566, BC014661, DA014862