CEMIP2 - cell migration inducing hyaluronidase 2 Gene

Also Known as TMEM2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23670

About CEMIP2

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:71,683,366-71,769,466 (from NCBI)

This gene has 13 transcripts (splice variants), 206 orthologues and 1 paralogue. Broad expression in placenta (RPKM 42.4), gall bladder (RPKM 25.8) and 23 other tissues.

Summary

This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated Antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast Cancer cells has been shown to mediate the pathological effects of SOX4 on Cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]

CEMIP2 Products (3)

mRNA Protein Name
NM_001135820.2 NP_001129292.1 cell surface hyaluronidase isoform b
NM_001349784.2 NP_001336713.1 cell surface hyaluronidase isoform c
NM_013390.3 NP_037522.1 cell surface hyaluronidase isoform a
Molecular Function GO Annotation Evidence References Source
enables calcium ion binding IDA
IDA: Inferred from direct assay
28246172 GOA
enables hyalurononglucosaminidase activity IDA
IDA: Inferred from direct assay
37527776 GOA
NOT enables hyalurononglucosaminidase activity IMP
IMP: Inferred from mutant phenotype
37196767 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
28246172 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

CEMIP2 Protein Structure

G8

G8: G8 domain (122 - 245)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1383 a.a.
Protein Preferred Names Protein Names

cell surface hyaluronidase

  • transmembrane protein 2

Related Diseases

Diseases Alias
Inguinal Hernia
  • Hernia Inguinal

  • Hernia, Inguinal

  • Inguinal Hernias

  • Bubonocele

  • Indirect Inguinal Hernia

  • Direct Inguinal Hernia

  • Oblique Inguinal Hernia

  • Scrotal Hernia

  • Ih - [Inguinal Hernia]

Hypertelorism
  • Eyes Wide Apart

  • Eyes Widely Set

  • Hypertelorism Of Orbit

  • Ocular Hypertelorism

  • Orbital Separation Excessive

Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Balantidiasis
  • Balantidiosis

  • Human Balantidiasis

  • B Coli Infection

  • Balantidium Coli Infection

  • Large-Intestinal Infection With Balantidium Coli

  • Ciliary Dysentery

Bartter Syndrome, Type 1, Antenatal
  • Hyperprostaglandin E Syndrome 1

  • Bartter Disease Type 1

  • BARTS1

  • Bartter Syndrome, Type 1

  • Bartter Syndrome Type 1

  • Hypokalemic Alkalosis With Hypercalciuria Antenatal 1

  • Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal

  • Bartter Syndrome Type 1 Antenatal

  • Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal

  • Bartter Syndrome Antenatal Type 1

  • Antenatal Bartter Syndrome Type 1

  • Bartter Syndrome Type I

  • Bartter Syndrome 1, Antenatal

  • Abs1

  • Antenatal Bartter Syndrome 1

  • Bs1

  • Bartter Syndrome, Antenatal Type 1

  • Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis

Benign Familial Infantile Epilepsy
  • Benign Familial Infantile Seizures

  • Bfie

  • Benign Familial Infantile Convulsion

  • Bfic

  • Bfis

  • Benign Familial Infantile Convulsions

  • Familial Benign Neonatal Epilepsy

  • Watanabe-Vigevano Syndrome

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

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
Felis catus CEMIP2 VGNC VGNC:60751
Bos taurus CEMIP2 VGNC VGNC:36021
Macaca mulatta CEMIP2 VGNC VGNC:103249
Rattus norvegicus CEMIP2 RGD RGD:1307941
Canis familiaris CEMIP2 VGNC VGNC:47518
Mus musculus CEMIP2 MGD MGI:1890373
Others CEMIP2 NCBI