2. Gene
  3. EMC2 - ER membrane protein complex subunit 2 Gene

EMC2 - ER membrane protein complex subunit 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TTC35; KIAA0103

Gene ID: 9694 | Gene type: protein coding

About EMC2

Cytogenetic location: 8q23.1 Genomic coordinates (GRCh38): 8:108,443,624-108,489,196 (from NCBI)

This gene has 7 transcripts (splice variants) and 222 orthologues. Ubiquitous expression in testis (RPKM 34.1), fat (RPKM 27.5) and 25 other tissues.

Summary

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Is extrinsic component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]

EMC2 Products(4)

mRNA Protein Name
NM_001329493.2 NP_001316422.1 ER membrane protein complex subunit 2 isoform 1
NM_001329494.2 NP_001316423.1 ER membrane protein complex subunit 2 isoform 3
NM_001329495.2 NP_001316424.1 ER membrane protein complex subunit 2 isoform 4
NM_014673.5 NP_055488.1 ER membrane protein complex subunit 2 isoform 2

EMC2 Protein Structure

TPR_1

TPR_1: Tetratricopeptide repeat (98 - 120)

TPR_19

TPR_19: Tetratricopeptide repeat (133 - 191)

  • 0
  • 100
  • 200
  • 297 a.a.
Protein Preferred Names Protein Names

ER membrane protein complex subunit 2

TPR repeat protein 35

Related Diseases

Diseases Alias
Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2

FANCD2

Fad2

Fa4

Fancd

Fanconi Pancytopenia Type 4

Fanconi Anemia, Complementation Group D

Fanconi Pancytopenia, Type 4

Facd

Fanconi Anemia Complementation Group D
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04337 EMC2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus EMC2 RGD RGD:1310430
Felis catus EMC2 VGNC VGNC:61833
Bos taurus EMC2 VGNC VGNC:28463
Mus musculus EMC2 MGD MGI:1913986
Macaca mulatta EMC2 VGNC VGNC:72135