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COLCA2 colorectal cancer associated 2 [ Homo sapiens (human) ]

Gene ID: 120376, updated on 5-Jan-2022

Summary

Official Symbol
COLCA2provided by HGNC
Official Full Name
colorectal cancer associated 2provided by HGNC
Primary source
HGNC:HGNC:26978
See related
Ensembl:ENSG00000214290 MIM:615694
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
CASC13; C11orf93; LOH11CR1G
Summary
Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Broad expression in stomach (RPKM 2.9), duodenum (RPKM 2.1) and 22 other tissues See more
Orthologs
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Genomic context

See COLCA2 in Genome Data Viewer
Location:
11q23.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (111298349..111308735)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111169271..111179460)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723966 Neighboring gene ribosomal protein S17 pseudogene 15 Neighboring gene chromosome 11 open reading frame 53 Neighboring gene colorectal cancer associated 1 Neighboring gene uncharacterized LOC105369491 Neighboring gene microRNA 4491

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
GeneReviews: Not available
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
GeneReviews: Not available
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
GeneReviews: Not available
Meta-analysis of new genome-wide association studies of colorectal cancer risk.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
colorectal cancer-associated protein 2
Names
cancer susceptibility candidate 13
cancer susceptibility candidate protein 13
colorectal cancer associated two

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)

  1. NM_001136105.3NP_001129577.1  colorectal cancer-associated protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001129577.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents an alternate 5' UTR exon. Variants 2 and 3 encode the same protein which is N-terminally truncated compared to isoform 1.
    Source sequence(s)
    AK292195, AP002448, BC042557, DA307321
    Consensus CDS
    CCDS44728.1
    UniProtKB/Swiss-Prot
    A8K830
    Related
    ENSP00000381115.2, ENST00000398035.6
  2. NM_001271457.2NP_001258386.1  colorectal cancer-associated protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001258386.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents an alternate 5' UTR exon. Variants 2 and 3 encode the same protein which is N-terminally truncated compared to isoform 1.
    Source sequence(s)
    AP002448, BC042557, BQ893717
    Consensus CDS
    CCDS44728.1
    UniProtKB/Swiss-Prot
    A8K830
    Related
    ENSP00000481028.2, ENST00000614153.4
  3. NM_001271458.2NP_001258387.1  colorectal cancer-associated protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001258387.1

    Status: VALIDATED

    Source sequence(s)
    AP002448
    Consensus CDS
    CCDS73378.1
    UniProtKB/Swiss-Prot
    A8K830
    Related
    ENSP00000484135.1, ENST00000610738.6
  4. NM_001370484.1NP_001357413.1  colorectal cancer-associated protein 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform 2.
    Source sequence(s)
    AP002448
    Related
    ENSP00000434519.1, ENST00000526216.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    111298349..111308735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017196.2XP_016872685.1  colorectal cancer-associated protein 2 isoform X1

  2. XM_017017199.1XP_016872688.1  colorectal cancer-associated protein 2 isoform X3

    UniProtKB/Swiss-Prot
    A8K830
  3. XM_017017200.1XP_016872689.1  colorectal cancer-associated protein 2 isoform X3

    UniProtKB/Swiss-Prot
    A8K830
  4. XM_017017197.1XP_016872686.1  colorectal cancer-associated protein 2 isoform X2

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