1. Gene
  2. CHIC2 - cysteine rich hydrophobic domain 2 Gene

CHIC2 - cysteine rich hydrophobic domain 2 Gene

Homo sapiens

Also known as BTL

Gene ID: 26511 | Gene type: protein coding

About CHIC2

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:54,009,789-54,091,879 (from NCBI)

This gene has 4 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 41 phenotypes. Ubiquitous expression in testis (RPKM 2.4), gall bladder (RPKM 1.4) and 25 other tissues.

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]

CHIC2 Products(1)

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

CHIC2 Protein Structure

Erf4

Erf4: Golgin subfamily A member 7/ERF4 family (39 - 141)

  • 0
  • 100
  • 165 a.a.
Protein Preferred Names Protein Names

cysteine-rich hydrophobic domain-containing protein 2

BRX-like translocated in leukemia

Related Diseases

Diseases Alias
Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Disseminated Eosinophilic Collagen Disease
Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement

Myeloid/Lymphoid Neoplasm Associated With Pdgfra Rearrangement

Myeloid And Lymphoid Neoplasms With Pdgfra Rearrangement

Splenic Flexure Cancer

Ca Splenic Flexure - Colon

Malignant Neoplasm Of Splenic Flexure

Malignant Tumor Of Splenic Flexure

Malignant Neoplasm Of Splenic Flexure Of Colon

Chronic Eosinophilic Leukemia

Pdgfra-Associated Chronic Eosinophilic Leukemia

Endomyocardial Fibrosis

Becker'S Disease

Obscure African Cardiomyopathy

African Endomyocardial Fibrosis

Endomyocardial Sclerosis

EMF

Becker Muscular Dystrophy

Extracutaneous Mastocytoma

Mastocytoma

Mast Cell Neoplasm

Benign Mastocytoma

Sm-Ahnmd

Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease

Systemic Mastocytosis With Associated Clonal Haematological Non-Mast Cell Lineage Disease

Systemic Mastocytosis With Associated Clonal Hematological Non-Mast-Cell Lineage Disease

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CHIC2 VGNC VGNC:27293
Canis familiaris CHIC2 VGNC VGNC:39216
Felis catus CHIC2 VGNC VGNC:107319
Mus musculus CHIC2 MGD MGI:1921527
Rattus norvegicus CHIC2 RGD RGD:1309278