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

ZNF407 - zinc finger protein 407 Gene

Homo sapiens

Also known as SIMHA

Gene ID: 55628 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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.
Protein Preferred Names Protein Names

zinc finger protein 407

Related Diseases

Diseases Alias
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

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 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