ZNF407 - zinc finger protein 407 Gene

Also Known as SIMHA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55628

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)

  • 0
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  • 2000
  • 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
Others ZNF407 NCBI