1. Gene
  2. TMPRSS5 - transmembrane serine protease 5 Gene

TMPRSS5 - transmembrane serine protease 5 Gene

中文名称:跨膜丝氨酸蛋白酶 5

种属: Homo sapiens

同用名: SPINESIN

基因 ID: 80975 | 基因类型: protein coding

关于 TMPRSS5

Cytogenetic location: 11q23.2 Genomic coordinates (GRCh38): 11:113,687,550-113,706,308 (from NCBI)

This gene has 13 transcripts (splice variants), 188 orthologues and 17 paralogues. Biased expression in brain (RPKM 1.2), salivary gland (RPKM 0.5) and 9 other tissues.

功能概要

该基因编码属于丝氨酸蛋白酶家族的蛋白质。已知丝氨酸蛋白酶参与许多生理和病理过程。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 1 月]

This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

TMPRSS5 基因产物(5)

mRNA Protein Name
NM_001288749.2 NP_001275678.1 transmembrane protease serine 5 isoform 2
NM_001288750.2 NP_001275679.1 transmembrane protease serine 5 isoform 3
NM_001288751.2 NP_001275680.1 transmembrane protease serine 5 isoform 4
NM_001288752.2 NP_001275681.1 transmembrane protease serine 5 isoform 5
NM_030770.4 NP_110397.2 transmembrane protease serine 5 isoform 1

TMPRSS5 蛋白结构

SRCR_2

SRCR_2: Scavenger receptor cysteine-rich domain (117 - 212)

Trypsin

Trypsin: Trypsin (218 - 448)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 457 a.a.
蛋白主名 其他名称

transmembrane protease serine 5

transmembrane protease, serine 5

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 25

DFNB25

Autosomal Recessive Nonsyndromic Deafness 25

Autosomal Recessive Deafness 25

Deafness, Autosomal Recessive, 25

Deafness, Autosomal Recessive, Type 25

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Deafness, Autosomal Recessive 22

DFNB22

Autosomal Recessive Nonsyndromic Deafness 22

Autosomal Recessive Deafness 22

Deafness, Autosomal Recessive, 22

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 22

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 22

Deafness, Autosomal Recessive 24

DFNB24

Deafness, Autosomal Recessive, 24

Autosomal Recessive Nonsyndromic Deafness 24

Autosomal Recessive Deafness 24

Deafness, Autosomal Recessive, Type 24

Charcot-Marie-Tooth Disease, Axonal, Type 2a1

CMT2A1

Charcot-Marie-Tooth Disease Type 2a1

Hereditary Motor And Sensory Neuropathy Iia1

Hmsn Iia1

Hmsn2a1

Charcot-Marie-Tooth Disease, Type 2a1

Charcot-Marie-Tooth Disease Neuronal Type 2a1

Charcot-Marie-Tooth Neuropathy Type 2a1

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1

Charcot-Marie-Tooth Disease, Neuronal, Type 2a1

Charcot-Marie-Tooth Neuropathy, Type 2a1

Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1

Charcot-Marie-Tooth Disease 2a1

Charcot-Marie-Tooth Disease Axonal Type 2a1

Developmental And Epileptic Encephalopathy 5

Epileptic Encephalopathy, Early Infantile, 5

DEE5

Eiee5

Developmental And Epileptic Encephalopathy, 5

Early Infantile Epileptic Encephalopathy 5

Encephalopathy, Epileptic, Early Infantile, Type 5

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Charcot-Marie-Tooth Disease Type 1a

CMT1A

Charcot-Marie-Tooth Disease, Type Ia

Hmsn1a

Hereditary Motor And Sensory Neuropathy Ia

Hmsn Ia

Charcot-Marie-Tooth Neuropathy, Type 1a

Charcot-Marie-Tooth Disease, Type 1a

Charcot-Marie-Tooth Neuropathy Type 1a

Hereditary Motor And Sensory Neuropathy 1a

Microduplication 17p12

Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a

Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a

Cmt 1a

Charcot Marie Tooth Disease Type 1a

Hmsn 1a

Charcot-Marie-Tooth Disease 1a

Charcot-Marie-Tooth Disease Demyelinating Type 1a

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

CMTX1

Cmtx

Charcot-Marie-Tooth Disease X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

X-Linked Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

Cmt1x

X-Linked Charcot-Marie-Tooth Disease Type 1

X-Linked Hereditary Motor And Sensory Neuropathy

Hereditary Motor And Sensory Neuropathy, X-Linked

Hmsn, X-Linked

Charcot-Marie-Tooth Neuropathy, X-Linked, 1

Cmt2, Formerly

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy X-Linked 1

Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

Hereditary Motor And Sensory Neuropathy X-Linked

Hmsn X-Linked

Charcot-Marie-Tooth, X-Linked

Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

Charcot-Marie-Tooth Disease, X-Linked, 1

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris TMPRSS5 VGNC VGNC:47635
Macaca mulatta TMPRSS5 VGNC VGNC:78970
Bos taurus TMPRSS5 VGNC VGNC:36143
Felis catus TMPRSS5 VGNC VGNC:66388
Mus musculus TMPRSS5 MGD MGI:1933407
Rattus norvegicus TMPRSS5 RGD RGD:628625