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

Gene ID: 200014, updated on 24-Nov-2021

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
Also known as
Lgd1
Expression
Ubiquitous expression in testis (RPKM 5.5), lung (RPKM 5.1) and 25 other tissues See more
Orthologs
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Genomic context

See CC2D1B in Genome Data Viewer
Location:
1p32.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (52350597..52366205, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (52816269..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 Sharpr-MPRA regulatory region 8197 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

Process Evidence Code Pubs
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nuclear envelope TAS
Traceable Author Statement
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in 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)

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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_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, ENST00000284376.8
  2. NM_032449.3NP_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 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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    52350597..52366205 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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