CREB3L2 - cAMP responsive element binding protein 3 like 2 Gene

Also Known as BBF2H7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64764

About CREB3L2

Cytogenetic location: 7q33 Genomic coordinates (GRCh38): 7:137,874,979-138,002,086 (from NCBI)

This gene has 6 transcripts (splice variants), 219 orthologues, 9 paralogues and is associated with 82 phenotypes. Ubiquitous expression in thyroid (RPKM 36.0), placenta (RPKM 17.4) and 24 other tissues.

Summary

This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

CREB3L2 Products (3)

mRNA Protein Name
NM_001253775.2 NP_001240704.1 cyclic AMP-responsive element-binding protein 3-like protein 2 isoform 2
NM_001318246.2 NP_001305175.1 cyclic AMP-responsive element-binding protein 3-like protein 2 isoform 3
NM_194071.4 NP_919047.2 cyclic AMP-responsive element-binding protein 3-like protein 2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables cAMP response element binding IMP
IMP: Inferred from mutant phenotype
17178827 GOA
enables transcription cis-regulatory region binding IMP
IMP: Inferred from mutant phenotype
17178827 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
17178827 GOA
involved in response to endoplasmic reticulum stress IEP
IEP: Inferred from expression pattern
17178827 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
17178827 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17178827 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CREB3L2 Protein Structure

bZIP_1

bZIP_1: bZIP transcription factor (292 - 354)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 520 a.a.
Protein Preferred Names Protein Names

cyclic AMP-responsive element-binding protein 3-like protein 2

  • B-ZIB transcription factor

Related Diseases

Diseases Alias
Myxofibrosarcoma
  • Fibromyxosarcoma

  • Fibromyxoid Sarcoma

  • Myxoid Malignant Fibrous Histiocytoma

  • Dermatofibrosarcoma Protuberans, Myxoid

Sarcoma
  • Connective And Soft Tissue Neoplasm

  • Tumor Of Soft Tissue And Skeleton

  • Sarcomas

  • Sarcoma - Category

Adult Fibrosarcoma
Spindle Cell Liposarcoma
Kidney Fibrosarcoma
  • Fibrosarcoma Of The Kidney

Isolated Growth Hormone Deficiency, Type Ii
  • Ighd Ii

  • Isolated Growth Hormone Deficiency Type Ii

  • IGHD2

  • Growth Hormone Deficiency, Isolated, Type Ii

  • Congenital Ighd Type Ii

  • Congenital Isolated Gh Deficiency Type Ii

  • Congenital Isolated Growth Hormone Deficiency Type Ii

  • Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant

  • Growth Hormone Deficiency, Isolated, Autosomal Dominant

  • Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant

  • Autosomal Dominant Isolated Growth Hormone Deficiency

  • Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency

  • Isolated Growth Hormone Deficiency Type 2

  • Growth Hormone Deficiency, Isolated Autosomal Dominant

  • Growth Hormone Deficiency, Isolated, 2

  • Growth Hormone Deficiency Isolated Autosomal Dominant

Perineurioma
  • Soft Tissue Perineurioma

Pseudosarcomatous Fibromatosis
  • Nodular Fasciitis

  • Pseudosarcomatous Fasciitis

  • Fasciitis - Nodular

  • Fasciitis Nodular

Fibrosarcoma
  • Neoplasms, Fibrous Tissue

  • Fibrocytic Tumor

  • Fibrosarcoma Of Soft Tissue

  • Fibrous Tissue Neoplasm

Ossifying Fibromyxoid Tumor
  • Ossifying Fibromyxoid Tumour

  • Ossifying Fibromyxoma

Myxoid Liposarcoma
  • Myxoid/Round Cell Liposarcoma

  • Liposarcoma, Myxoid

  • Mrcls

  • Myxoliposarcoma

  • MXLIPO

  • Liposarcoma Myxoid

  • Liposarcoma

Chondrosarcoma, Extraskeletal Myxoid
  • Extraskeletal Myxoid Chondrosarcoma

  • Emc

  • Myxoid Extraosseous Chondrosarcoma

Keratosis Follicularis Spinulosa Decalvans
  • Kfsd

  • Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

  • Keratosis Follicularis Spinulosa Decalvans, X-Linked

  • Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

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
Macaca mulatta CREB3L2 VGNC VGNC:71497
Felis catus CREB3L2 VGNC VGNC:61167
Rattus norvegicus CREB3L2 RGD RGD:1306040
Bos taurus CREB3L2 VGNC VGNC:27695
Mus musculus CREB3L2 MGD MGI:2442695
Canis familiaris CREB3L2 VGNC VGNC:39598
Others CREB3L2 NCBI