1. Gene
  2. NXPH4 - neurexophilin 4 Gene

NXPH4 - neurexophilin 4 Gene

中文名称:亲神经素 4

种属: Homo sapiens

同用名: NPH4

基因 ID: 11247 | 基因类型: protein coding

关于 NXPH4

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,216,794-57,226,449 (from NCBI)

This gene has 3 transcripts (splice variants), 229 orthologues and 3 paralogues. Biased expression in skin (RPKM 4.7), brain (RPKM 3.2) and 13 other tissues.

功能概要

预测启用信号受体结合活性。预测位于细胞外区域。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable signaling receptor binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]

NXPH4 基因产物(1)

mRNA Protein Name
NM_007224.4 NP_009155.1 neurexophilin-4 precursor
蛋白主名 其他名称

neurexophilin-4

alternative protein NXPH4

关联疾病

疾病名称 别名
Nephronophthisis 3

NPHP3

Nph3

Adolescent Nephronophthisis

Nephronophthisis, Type 3

Nephronophthisis 2

NPHP2

Nph2

Nephronophthisis 2, Infantile

Infantile Nephronophthisis 2

Infantile Nephronophthisis

Nephronophthisis, Type 2

Nephronophthisis 1

NPHP1

Nephronophthisis, Familial Juvenile

Nph1

Nephronophthisis 1, Juvenile

Juvenile Nephronophthisis 1

Familial Juvenile Nephronophthisis 1

Nephronophthisis, Type 1

Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

DA1A

Da1

Amcd1

Arthrogryposis, Distal, Type 2b4

Distal Arthrogryposis Type 1a

Arthrogryposis, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis Multiplex Congenita, Distal, Type I

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1a

Amc

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

DA2B4

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis

Li-Fraumeni Syndrome 1

Lfs1

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

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
Bos taurus NXPH4 VGNC VGNC:32383
Rattus norvegicus NXPH4 RGD RGD:628723
Mus musculus NXPH4 MGD MGI:1336197