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C2CD2 C2 calcium dependent domain containing 2 [ Homo sapiens (human) ]

Gene ID: 25966, updated on 12-Oct-2019

Summary

Official Symbol
C2CD2provided by HGNC
Official Full Name
C2 calcium dependent domain containing 2provided by HGNC
Primary source
HGNC:HGNC:1266
See related
Ensembl:ENSG00000157617 MIM:617581
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
TMEM24L; C21orf25; C21orf258
Expression
Broad expression in adrenal (RPKM 38.9), fat (RPKM 23.4) and 21 other tissues See more
Orthologs

Genomic context

See C2CD2 in Genome Data Viewer
Location:
21q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (41885110..41954018, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43305219..43374066, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724800 Neighboring gene Sharpr-MPRA regulatory region 172 Neighboring gene PR/SET domain 15 Neighboring gene small nucleolar RNA, H/ACA box 91 Neighboring gene zinc finger and BTB domain containing 21 Neighboring gene ZNF295 antisense RNA 1 Neighboring gene uncharacterized LOC107985502

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC71445, DKFZp686O198, DKFZp586F0422

General protein information

Preferred Names
C2 domain-containing protein 2
Names
TMEM24 related geme
transmembrane protein 24-like

NCBI Reference Sequences (RefSeq)

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_015500.2NP_056315.1  C2 domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_056315.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB047784, AP001619
    Consensus CDS
    CCDS42933.1
    UniProtKB/Swiss-Prot
    Q9Y426
    Related
    ENSP00000369853.3, ENST00000380486.4
    Conserved Domains (1) summary
    cd08678
    Location:265391
    C2_C21orf25-like; C2 domain found in the Human chromosome 21 open reading frame 25 (C21orf25) protein
  2. NM_199050.3NP_950251.1  C2 domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_950251.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AI143200, AL833323, AP001619
    Consensus CDS
    CCDS13677.1
    UniProtKB/Swiss-Prot
    Q9Y426
    Related
    ENSP00000329302.7, ENST00000329623.11
    Conserved Domains (1) summary
    cd08678
    Location:110236
    C2_C21orf25-like; C2 domain found in the Human chromosome 21 open reading frame 25 (C21orf25) protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    41885110..41954018 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529522.2XP_011527824.1  C2 domain-containing protein 2 isoform X1

    Conserved Domains (1) summary
    cd08678
    Location:276402
    C2_C21orf25-like; C2 domain found in the Human chromosome 21 open reading frame 25 (C21orf25) protein
  2. XM_017028315.1XP_016883804.1  C2 domain-containing protein 2 isoform X5

  3. XM_011529523.2XP_011527825.1  C2 domain-containing protein 2 isoform X2

    Conserved Domains (1) summary
    cd08678
    Location:185311
    C2_C21orf25-like; C2 domain found in the Human chromosome 21 open reading frame 25 (C21orf25) protein
  4. XM_005261109.4XP_005261166.1  C2 domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_005261166.1

    UniProtKB/Swiss-Prot
    Q9Y426
    Conserved Domains (1) summary
    cd08678
    Location:110236
    C2_C21orf25-like; C2 domain found in the Human chromosome 21 open reading frame 25 (C21orf25) protein
  5. XM_011529524.3XP_011527826.1  C2 domain-containing protein 2 isoform X4

    Conserved Domains (1) summary
    cd08678
    Location:276402
    C2_C21orf25-like; C2 domain found in the Human chromosome 21 open reading frame 25 (C21orf25) protein
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