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ITM2C integral membrane protein 2C [ Homo sapiens (human) ]

Gene ID: 81618, updated on 1-Jun-2020

Summary

Official Symbol
ITM2Cprovided by HGNC
Official Full Name
integral membrane protein 2Cprovided by HGNC
Primary source
HGNC:HGNC:6175
See related
Ensembl:ENSG00000135916 MIM:609554
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
E25; BRI3; E25C; ITM3; BRICD2C
Expression
Broad expression in colon (RPKM 478.6), brain (RPKM 266.8) and 17 other tissues See more
Orthologs

Genomic context

See ITM2C in Genome Data Viewer
Location:
2q37.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (230864185..230879254)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (231729546..231743963)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene calcium binding protein 39 Neighboring gene BANF1 pseudogene 3 Neighboring gene RNA, U6 small nuclear 268, pseudogene Neighboring gene GPR55 cis regulatory suppressor of immune response RNA Neighboring gene G protein-coupled receptor 55 Neighboring gene COX20 pseudogene 2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amyloid-beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
integral membrane protein 2C
Names
BRICHOS domain containing 2C
cerebral protein 14
integral membrane protein 3
transmembrane protein BRI3

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_001012514.3NP_001012532.1  integral membrane protein 2C isoform 3

    See identical proteins and their annotated locations for NP_001012532.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AK056321, BC098563, DA182471
    Consensus CDS
    CCDS33396.1
    UniProtKB/Swiss-Prot
    Q9NQX7
    Related
    ENSP00000335121.6, ENST00000335005.10
    Conserved Domains (1) summary
    smart01039
    Location:89181
    BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
  2. NM_001012516.2NP_001012534.1  integral membrane protein 2C isoform 2

    See identical proteins and their annotated locations for NP_001012534.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK056321, BC098563, DA138409
    Consensus CDS
    CCDS33395.1
    UniProtKB/Swiss-Prot
    Q9NQX7
    Related
    ENSP00000322100.6, ENST00000326407.10
    Conserved Domains (1) summary
    cl04394
    Location:136191
    BRICHOS; BRICHOS domain
  3. NM_001287240.2NP_001274169.1  integral membrane protein 2C isoform 4

    See identical proteins and their annotated locations for NP_001274169.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation from a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC012507, AF272043, BC098563, BX444331
    Consensus CDS
    CCDS74665.1
    UniProtKB/Swiss-Prot
    Q9NQX7
    UniProtKB/TrEMBL
    B8ZZM6
    Related
    ENSP00000387242.2, ENST00000409704.6
    Conserved Domains (1) summary
    smart01039
    Location:74166
    BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
  4. NM_001287241.2NP_001274170.1  integral membrane protein 2C isoform 1

    See identical proteins and their annotated locations for NP_001274170.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Both variants 1 and 5 encode the same isoform (1).
    Source sequence(s)
    AC012507, AF272043, BC098563, BX444331
    Consensus CDS
    CCDS2479.1
    UniProtKB/Swiss-Prot
    Q9NQX7
    UniProtKB/TrEMBL
    A0A024R466
    Conserved Domains (1) summary
    smart01039
    Location:136228
    BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
  5. NM_030926.6NP_112188.1  integral membrane protein 2C isoform 1

    See identical proteins and their annotated locations for NP_112188.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Both variants 1 and 5 encode the same isoform.
    Source sequence(s)
    AF272043, BC098563
    Consensus CDS
    CCDS2479.1
    UniProtKB/Swiss-Prot
    Q9NQX7
    UniProtKB/TrEMBL
    A0A024R466
    Related
    ENSP00000322730.6, ENST00000326427.11
    Conserved Domains (1) summary
    smart01039
    Location:136228
    BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    230864185..230879254
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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