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

EMC2 - ER membrane protein complex subunit 2 Gene

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to membrane insertase activity IMP
IMP: Inferred from mutant phenotype
29809151 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Cellular Component GO Annotation Evidence Reference Source
part of EMC complex IDA
IDA: Inferred from direct assay
22119785 GOA
part of EMC complex IPI
IPI: Inferred from physical interaction
32439656 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
22119785 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
10942595 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
22119785 GOA
located in extrinsic component of endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
32439656 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

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

EMC2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
EMC2 Q15006 COX4NB Homo sapiens Q53Y03 25416956
Intra
EMC2 Q15006 COX4NB Homo sapiens Q53Y03 25416956
Intra
EMC2 Q15006 EMC3 Homo sapiens Q9P0I2 35271311
Intra
EMC2 Q15006 EMC3 Homo sapiens Q9P0I2 26496610
Intra
EMC2 Q15006 EMC3 Homo sapiens Q9P0I2 33961781
Intra
EMC2 Q15006 EMC3 Homo sapiens Q9P0I2 32439656
Intra
EMC2 Q15006 EMC3 Homo sapiens Q9P0I2 22119785
Intra
EMC2 Q15006 SS18L2 Homo sapiens Q9UHA2 32296183
Intra
EMC2 Q15006 PCDHB12 Homo sapiens Q9Y5F1 32296183
Intra
EMC2 Q15006 HSP90B1 Homo sapiens Q96GW1 32296183
Intra
EMC2 Q15006 MMGT1 Homo sapiens Q8N4V1 28514442
Intra
EMC2 Q15006 MMGT1 Homo sapiens Q8N4V1 26496610
Intra
EMC2 Q15006 MMGT1 Homo sapiens Q8N4V1 33961781
Intra
EMC2 Q15006 MMGT1 Homo sapiens Q8N4V1 35271311
Intra
EMC2 Q15006 MMGT1 Homo sapiens Q8N4V1 22119785
Intra
EMC2 Q15006 MMGT1 Homo sapiens Q8N4V1 32439656
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 16189514
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 28514442
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 22119785
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 35271311
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 32296183
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 26496610
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 32439656
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 30021884
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 32296183
Intra
EMC2 Q15006 EMC8 Homo sapiens O43402 33961781
Intra
EMC2 Q15006 IKZF3 Homo sapiens Q9UKT9 25416956
Intra
EMC2 Q15006 SH3BP5L Homo sapiens Q7L8J4 32296183
Intra
EMC2 Q15006 SH3BP5L Homo sapiens Q7L8J4 32296183
Intra
EMC2 Q15006 SH3BP5L Homo sapiens Q7L8J4 32296183
Intra
EMC2 Q15006 EMC9 Homo sapiens Q9Y3B6 32439656
Intra
EMC2 Q15006 EMC9 Homo sapiens Q9Y3B6 32296183
Intra
EMC2 Q15006 EMC9 Homo sapiens Q9Y3B6 35271311
Intra
EMC2 Q15006 EMC9 Homo sapiens Q9Y3B6 25416956
Intra
EMC2 Q15006 EMC9 Homo sapiens Q9Y3B6 16189514
Intra
EMC2 Q15006 EMC9 Homo sapiens Q9Y3B6 32296183
Intra
EMC2 Q15006 EMC9 Homo sapiens Q9Y3B6 22119785
Intra
EMC2 Q15006 EMC9 Homo sapiens Q9Y3B6 33961781
Intra
EMC2 Q15006 EMC9 Homo sapiens Q9Y3B6 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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