CLRN2 - clarin 2 Gene

Also Known as DFNB117

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 645104

About CLRN2

Cytogenetic location: 4p15.32 Genomic coordinates (GRCh38): 4:17,515,165-17,527,104 (from NCBI)

This gene has 1 transcript (splice variant), 195 orthologues, 2 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

Summary

This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]

CLRN2 Products (1)

mRNA Protein Name
NM_001079827.2 NP_001073296.1 clarin-2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
33496845 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

CLRN2 Protein Structure

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (14 - 192)

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

clarin-2

CLRN2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CLRN2 A0PK11 NEMP1 Homo sapiens O14524-2 32296183
Intra
CLRN2 A0PK11 NEMP1 Homo sapiens O14524-2 32296183
Intra
CLRN2 A0PK11 NEMP1 Homo sapiens O14524-2 32296183
Intra
CLRN2 A0PK11 LRRC25 Homo sapiens Q8N386 32296183
Intra
CLRN2 A0PK11 LRRC25 Homo sapiens Q8N386 32296183
Intra
CLRN2 A0PK11 LRRC25 Homo sapiens Q8N386 32296183
Intra
CLRN2 A0PK11 CLEC2D Homo sapiens Q9UHP7-3 32296183
Intra
CLRN2 A0PK11 CLEC2D Homo sapiens Q9UHP7-3 32296183
Intra
CLRN2 A0PK11 CLEC2D Homo sapiens Q9UHP7-3 32296183
Intra
CLRN2 A0PK11 STOM Homo sapiens P27105 32296183
Intra
CLRN2 A0PK11 STOM Homo sapiens P27105 32296183
Intra
CLRN2 A0PK11 STOM Homo sapiens P27105 32296183
Intra
CLRN2 A0PK11 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
CLRN2 A0PK11 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
CLRN2 A0PK11 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
CLRN2 A0PK11 SSMEM1 Homo sapiens Q8WWF3 32296183
Intra
CLRN2 A0PK11 SSMEM1 Homo sapiens Q8WWF3 32296183
Intra
CLRN2 A0PK11 SSMEM1 Homo sapiens Q8WWF3 32296183
Intra
CLRN2 A0PK11 CLDN5 Homo sapiens O00501 32296183
Intra
CLRN2 A0PK11 CLDN5 Homo sapiens O00501 32296183
Intra
CLRN2 A0PK11 CLDN5 Homo sapiens O00501 32296183
Intra
CLRN2 A0PK11 TEX29 Homo sapiens Q8N6K0 32296183
Intra
CLRN2 A0PK11 TEX29 Homo sapiens Q8N6K0 32296183
Intra
CLRN2 A0PK11 TEX29 Homo sapiens Q8N6K0 32296183
Intra
CLRN2 A0PK11 ARL6IP6 Homo sapiens Q8N6S5 32296183
Intra
CLRN2 A0PK11 ARL6IP6 Homo sapiens Q8N6S5 32296183
Intra
CLRN2 A0PK11 ARL6IP6 Homo sapiens Q8N6S5 32296183
Intra
CLRN2 A0PK11 SIT1 Homo sapiens Q9Y3P8 32296183
Intra
CLRN2 A0PK11 SIT1 Homo sapiens Q9Y3P8 32296183
Intra
CLRN2 A0PK11 SIT1 Homo sapiens Q9Y3P8 32296183
Intra
CLRN2 A0PK11 VSIR Homo sapiens Q9H7M9 32296183
Intra
CLRN2 A0PK11 VSIR Homo sapiens Q9H7M9 32296183
Intra
CLRN2 A0PK11 VSIR Homo sapiens Q9H7M9 32296183
Intra
CLRN2 A0PK11 KLRC1 Homo sapiens P26715 32296183
Intra
CLRN2 A0PK11 KLRC1 Homo sapiens P26715 32296183
Intra
CLRN2 A0PK11 KLRC1 Homo sapiens P26715 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 117
  • DFNB117

  • Deafness, Autosomal Recessive, 117

Usher Syndrome, Type Iiia
  • Usher Syndrome Type 3

  • Ush3

  • Usher Syndrome Type 3a

  • USH3A

  • Usher Syndrome, Type Iii

  • Usher Syndrome, Type 3

  • Usher Syndrome, Type 3a

  • Usher Syndrome Type Iiia

  • Usher Syndrome 3a

  • Usher'S Syndrome Type 3

  • Usher Syndrome Iii

  • Usher Syndrome Type Iii

Acute Hemorrhagic Leukoencephalitis
  • Ahl

  • Acute Haemorrhagic Leucoencephalitis Of Weston Hurst

  • Leukoencephalitis, Acute Hemorrhagic

  • Acute Hemorrhagic Encephalomyelitis

  • Acute Necrotizing Hemorrhagic Leukoencephalitis

  • Weston-Hurst Syndrome

  • Ahle

  • Acute Haemorrhagic Leucoencephalitis

  • Hurst Disease

  • Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal

  • Postimmunization Or Postvaccinal Leukoencephalopathy

Deafness, Autosomal Recessive 111
  • DFNB111

  • Autosomal Recessive Nonsyndromic Deafness 111

  • Autosomal Recessive Deafness 111

  • Deafness, Autosomal Recessive, 111

Deafness, Autosomal Recessive 61
  • DFNB61

  • Autosomal Recessive Nonsyndromic Deafness 61

  • Autosomal Recessive Deafness 61

  • Deafness, Autosomal Recessive, 61

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61

  • Deafness, Autosomal Recessive, Type 61

Deafness, Autosomal Recessive 8
  • Neurosensory Nonsyndromic Recessive Deafness 8

  • DFNB8

  • Dfnb10

  • Deafness, Autosomal Recessive 10

  • Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8

  • Nsrd8

  • Autosomal Recessive Nonsyndromic Deafness 8

  • Deafness, Autosomal Recessive 8/10

  • Autosomal Recessive Deafness 10

  • Autosomal Recessive Deafness 8

  • Childhood-Onset Neurosensory Autosomal Recessive Deafness 8

  • Nrsd8

  • Deafness, Autosomal Recessive, 8

  • Childhood-Onset Neurosensory Deafness Autosomal Recessive 8

  • Deafness Autosomal Recessive 10

  • Deafness Autosomal Recessive 8/10

  • Deafness Neurosensory Autosomal Recessive 8

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8

  • Deafness, Autosomal Recessive, Type 8/10

Deafness, Autosomal Recessive 28
  • DFNB28

  • Autosomal Recessive Nonsyndromic Deafness 28

  • Autosomal Recessive Deafness 28

  • Deafness, Autosomal Recessive, 28

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 28

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 28

  • Deafness, Autosomal Recessive, Type 28

Deafness, Autosomal Dominant 65
  • DFNA65

  • Autosomal Dominant Nonsyndromic Deafness 65

  • Autosomal Dominant Deafness 65

  • Deafness, Autosomal Dominant, 65

  • Deafness, Autosomal Dominant, Type 65

Petroclival Meningioma
Deafness, Autosomal Recessive 86
  • DFNB86

  • Autosomal Recessive Nonsyndromic Deafness 86

  • Autosomal Recessive Deafness 86

  • Deafness, Autosomal Recessive, 86

  • Deafness, Nonsyndromic, Autosomal Recessive, Type 86

Deafness, Autosomal Dominant 3a
  • DFNA3A

  • Autosomal Dominant Nonsyndromic Deafness 3a

  • Autosomal Dominant Deafness 3a

  • Deafness, Autosomal Dominant, 3a

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a

  • Deafness, Autosomal Dominant, Type 3a

Melnick-Needles Syndrome
  • MNS

  • Melnick-Needles Osteodysplasty

  • Osteodysplasty Of Melnick And Needles

  • Osteochondrodysplasias

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Frontometaphyseal Dysplasia
  • Fmd

  • Dysplasia, Frontometaphyseal

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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 CLRN2 VGNC VGNC:27463
Rattus norvegicus CLRN2 RGD RGD:1591112
Mus musculus CLRN2 MGD MGI:3646230
Felis catus CLRN2 VGNC VGNC:60977
Macaca mulatta CLRN2 VGNC VGNC:71380
Canis familiaris CLRN2 VGNC VGNC:39360
Others CLRN2 NCBI