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CC2D1B coiled-coil and C2 domain containing 1B [ Homo sapiens (human) ]

Gene ID: 200014, updated on 1-Aug-2020

Summary

Official Symbol
CC2D1Bprovided by HGNC
Official Full Name
coiled-coil and C2 domain containing 1Bprovided by HGNC
Primary source
HGNC:HGNC:29386
See related
Ensembl:ENSG00000154222
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
Expression
Ubiquitous expression in testis (RPKM 5.5), lung (RPKM 5.1) and 25 other tissues See more
Orthologs

Genomic context

See CC2D1B in Genome Data Viewer
Location:
1p32.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (52348437..52366291, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (52816265..52831877, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger FYVE-type containing 9 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 7 Neighboring gene anaphase promoting complex subunit 10 pseudogene 1 Neighboring gene phospholipase A2 group XIIA pseudogene 1 Neighboring gene origin recognition complex subunit 1

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1836

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
coiled-coil and C2 domain-containing protein 1B
Names
FRE under dual repression-binding protein 2
five prime repressor element under dual repression-binding protein 2
freud-2

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_001330585.2NP_001317514.1  coiled-coil and C2 domain-containing protein 1B isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction and differs in the 3' UTR compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL513218
    Consensus CDS
    CCDS81323.1
    UniProtKB/Swiss-Prot
    Q5T0F9
    Related
    ENSP00000284376.3, ENST00000284376.7
  2. NM_032449.2NP_115825.1  coiled-coil and C2 domain-containing protein 1B isoform 1

    See identical proteins and their annotated locations for NP_115825.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB058739, AL513218, BM975102, BQ073406, DB458797
    Consensus CDS
    CCDS30714.1
    UniProtKB/Swiss-Prot
    Q5T0F9
    Related
    ENSP00000360642.2, ENST00000371586.6
    Conserved Domains (2) summary
    smart00685
    Location:537594
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:696853
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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
    52348437..52366291 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270590.2XP_005270647.1  coiled-coil and C2 domain-containing protein 1B isoform X1

    See identical proteins and their annotated locations for XP_005270647.1

    UniProtKB/Swiss-Prot
    Q5T0F9
    Conserved Domains (2) summary
    smart00685
    Location:537594
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:696853
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
  2. XM_006710423.2XP_006710486.1  coiled-coil and C2 domain-containing protein 1B isoform X2

    Conserved Domains (2) summary
    smart00685
    Location:385439
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:654811
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
  3. XM_017000559.1XP_016856048.1  coiled-coil and C2 domain-containing protein 1B isoform X4

    Conserved Domains (2) summary
    smart00685
    Location:222279
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:381538
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
  4. XM_024453857.1XP_024309625.1  coiled-coil and C2 domain-containing protein 1B isoform X4

    Conserved Domains (2) summary
    smart00685
    Location:222279
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:381538
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
  5. XM_005270593.2XP_005270650.1  coiled-coil and C2 domain-containing protein 1B isoform X3

    Related
    ENSP00000402440.2, ENST00000450942.2
    Conserved Domains (2) summary
    smart00685
    Location:228285
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:387544
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

RNA

  1. XR_002959657.1 RNA Sequence

  2. XR_001737028.1 RNA Sequence

  3. XR_001737027.1 RNA Sequence

  4. XR_001737029.1 RNA Sequence

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