1. Gene
  2. ZNF407 - zinc finger protein 407 Gene

ZNF407 - zinc finger protein 407 Gene

中文名称:锌指蛋白 407

种属: Homo sapiens

同用名: SIMHA

基因 ID: 55628 | 基因类型: protein coding

关于 ZNF407

Cytogenetic location: 18q22.3 Genomic coordinates (GRCh38): 18:74,597,870-75,065,671 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues, 51 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 1.7), ovary (RPKM 1.3) and 25 other tissues.

功能概要

该基因编码一种锌指蛋白,其确切功能尚不清楚。它可能参与转录调控。已经为该基因发现了几种编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 9 月]

This gene encodes a Zinc Finger Protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

ZNF407 基因产物(4)

mRNA Protein Name
NM_001146189.1 NP_001139661.1 zinc finger protein 407 isoform 2
NM_001146190.1 NP_001139662.1 zinc finger protein 407 isoform 3
NM_001384475.1 NP_001371404.1 zinc finger protein 407 isoform 1
NM_017757.3 NP_060227.2 zinc finger protein 407 isoform 1

ZNF407 蛋白结构

zf-H2C2_5

zf-H2C2_5: C2H2-type zinc-finger domain (589 - 612)

zf-H2C2_5

zf-H2C2_5: C2H2-type zinc-finger domain (705 - 729)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1444 - 1465)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (1554 - 1577)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (1642 - 1669)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (1700 - 1724)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (1728 - 1750)

zf-H2C2_5

zf-H2C2_5: C2H2-type zinc-finger domain (1773 - 1797)

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  • 2248 a.a.
蛋白主名 其他名称

zinc finger protein 407

关联疾病

疾病名称 别名
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies

SIMHA

Simha Syndrome

Homocarnosinosis

Homocarnosinase Deficiency

Hereditary Spastic Paraplegia Mental Impairment And Thin Corpus Callosum

Spastic Paraplegia 11

Autosomal Recessive Spastic Paraplegia Type 11

Hereditary Spastic Paraplegia 11

Nakamura Osame Syndrome

Spg11

Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum

Serum Carnosinase Deficiency

Hypotonia
Vertical Talus, Congenital

Congenital Vertical Talus

CVT

Congenital Convex Pes Valgus

Rocker-Bottom Foot Deformity

Vertical Talus

Pes Valgus, Congenital Convex

Congenital Convex Foot

Congenital Rocker-Bottom Foot

Rocker Bottom Foot

Flatfoot

Rocker-Bottom Foot

Charcot-Marie-Tooth Disease, Foot Deformity Of

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Stereotypic Movement Disorder

Stereotypy Habit Disorder

Stereotyped Repetitive Movements

Stereotyped Disorder

Stereotypes Nos

Stereotype Habit Disorder

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
Felis catus ZNF407 VGNC VGNC:80548
Canis familiaris ZNF407 VGNC VGNC:106619
Mus musculus ZNF407 MGD MGI:2685179
Rattus norvegicus ZNF407 RGD RGD:1310645
Macaca mulatta ZNF407 VGNC VGNC:104257