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CHIC2 cysteine rich hydrophobic domain 2 [ Homo sapiens (human) ]

Gene ID: 26511, updated on 3-Oct-2020

Summary

Official Symbol
CHIC2provided by HGNC
Official Full Name
cysteine rich hydrophobic domain 2provided by HGNC
Primary source
HGNC:HGNC:1935
See related
Ensembl:ENSG00000109220 MIM:604332
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BTL
Summary
This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 2.4), gall bladder (RPKM 1.4) and 25 other tissues See more
Orthologs

Genomic context

See CHIC2 in Genome Data Viewer
Location:
4q12
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (53996335..54064690, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (54874540..54931562, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene nucleic acid binding protein 2 pseudogene Neighboring gene ribosomal protein L21 pseudogene 44 Neighboring gene VISTA enhancer hs687 Neighboring gene VISTA enhancer hs678 Neighboring gene mortality factor 4 like 2 pseudogene 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?

Phenotypes

Associated conditions

Description Tests
Acute myeloid leukemia Compare labs
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC21173

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
Golgi-associated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cysteine-rich hydrophobic domain-containing protein 2
Names
BRX-like translocated in leukemia
cystein-rich hydrophobic domain 2
cysteine-rich hydrophobic domain 2 protein

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.

Genomic

  1. NG_028924.1 RefSeqGene

    Range
    5044..59860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012110.4NP_036242.1  cysteine-rich hydrophobic domain-containing protein 2

    See identical proteins and their annotated locations for NP_036242.1

    Status: REVIEWED

    Source sequence(s)
    AC110792, BC034691, DA746525
    Consensus CDS
    CCDS3493.1
    UniProtKB/Swiss-Prot
    Q9UKJ5
    Related
    ENSP00000263921.3, ENST00000263921.8
    Conserved Domains (1) summary
    pfam10256
    Location:46134
    Erf4; Golgin subfamily A member 7/ERF4 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    53996335..54064690 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714037.4XP_006714100.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006714100.1

    Related
    ENSP00000421032.1, ENST00000510894.1
    Conserved Domains (1) summary
    pfam10256
    Location:4687
    Erf4; Golgin subfamily A member 7/ERF4 family
  2. XM_011534382.2XP_011532684.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X2

    Conserved Domains (1) summary
    pfam10256
    Location:4678
    Erf4; Golgin subfamily A member 7/ERF4 family
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