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TMCC2 transmembrane and coiled-coil domain family 2 [ Homo sapiens (human) ]

Gene ID: 9911, updated on 3-May-2020

Summary

Official Symbol
TMCC2provided by HGNC
Official Full Name
transmembrane and coiled-coil domain family 2provided by HGNC
Primary source
HGNC:HGNC:24239
See related
Ensembl:ENSG00000133069
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
HUCEP11
Expression
Biased expression in bone marrow (RPKM 19.2), brain (RPKM 7.1) and 4 other tissues See more
Orthologs

Genomic context

See TMCC2 in Genome Data Viewer
Location:
1q32.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (205227946..205273343)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205197038..205242471)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RB binding protein 5, histone lysine methyltransferase complex subunit Neighboring gene glycogenin 2 pseudogene 2 Neighboring gene dual serine/threonine and tyrosine protein kinase Neighboring gene ribosomal protein L17 pseudogene 8 Neighboring gene TMCC2 antisense RNA 1 Neighboring gene NUAK family kinase 2 Neighboring gene kelch domain containing 8A Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 10

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

Phenotypes

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37594, FLJ38497, KIAA0481

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
amyloid precursor protein metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amyloid precursor protein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane and coiled-coil domains protein 2
Names
cerebral protein 11

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_001242925.1NP_001229854.1  transmembrane and coiled-coil domains protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001229854.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at 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)
    AB007950, AC093422, AK293734, CA313737, DC309246
    Consensus CDS
    CCDS55676.1
    UniProtKB/Swiss-Prot
    O75069
    Related
    ENSP00000437943.1, ENST00000545499.5
    Conserved Domains (1) summary
    pfam10267
    Location:211617
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  2. NM_001297611.1NP_001284540.1  transmembrane and coiled-coil domains protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001284540.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB007950, AC093422, AK314398, BQ222504, CA313737
    Consensus CDS
    CCDS76257.1
    UniProtKB/Swiss-Prot
    O75069
    UniProtKB/TrEMBL
    A0A1B0GUZ3
    Related
    ENSP00000490308.1, ENST00000637895.1
    Conserved Domains (1) summary
    pfam10267
    Location:64470
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  3. NM_001297613.1NP_001284542.1  transmembrane and coiled-coil domains protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001284542.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB007950, AC093422, AK095816, CA313737
    Consensus CDS
    CCDS73010.1
    UniProtKB/Swiss-Prot
    O75069
    UniProtKB/TrEMBL
    G5E963
    Related
    ENSP00000329436.6, ENST00000329800.7
    Conserved Domains (1) summary
    pfam10267
    Location:49455
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  4. NM_001331034.1NP_001317963.1  transmembrane and coiled-coil domains protein 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC093422, BC041019, DA291330
    Consensus CDS
    CCDS81418.1
    UniProtKB/TrEMBL
    A0A0C4DFR1, Q8IW47
    Related
    ENSP00000331842.7, ENST00000330675.12
  5. NM_001375651.1NP_001362580.1  transmembrane and coiled-coil domains protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC093422
    Related
    ENST00000495538.5
  6. NM_001375652.1NP_001362581.1  transmembrane and coiled-coil domains protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC093422
  7. NM_014858.4NP_055673.2  transmembrane and coiled-coil domains protein 2 isoform 1

    See identical proteins and their annotated locations for NP_055673.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB007950, BM674135, T51366
    Consensus CDS
    CCDS30984.1
    UniProtKB/Swiss-Prot
    O75069
    Related
    ENSP00000350718.3, ENST00000358024.8
    Conserved Domains (1) summary
    pfam10267
    Location:289695
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    205227946..205273343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245686.3XP_005245743.1  transmembrane and coiled-coil domains protein 2 isoform X2

    Conserved Domains (1) summary
    pfam10267
    Location:289606
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
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