1. Gene
  2. FHDC1 - FH2 domain containing 1 Gene

FHDC1 - FH2 domain containing 1 Gene

Homo sapiens

Also known as INF1

Gene ID: 85462 | Gene type: protein coding

About FHDC1

This gene has 1 transcript (splice variant), 221 orthologues and 18 paralogues. Ubiquitous expression in thyroid (RPKM 7.7), prostate (RPKM 5.1) and 24 other tissues.

Summary

Predicted to enable actin binding activity and microtubule binding activity. Involved in Golgi ribbon formation; cilium assembly; and stress fiber assembly. Located in cilium and microtubule. [provided by Alliance of Genome Resources, Apr 2022]

FHDC1 Products(2)

mRNA Protein Name
NM_001371116.1 NP_001358045.1 FH2 domain-containing protein 1
NM_033393.3 NP_203751.2 FH2 domain-containing protein 1

FHDC1 Protein Structure

FH2

FH2: Formin Homology 2 Domain (92 - 457)

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  • 1143 a.a.
Protein Preferred Names Protein Names

FH2 domain-containing protein 1

inverted formin-1

Related Diseases

Diseases Alias
Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Dementia, Familial Danish

Fdd

Familial Danish Dementia

Heredopathia Ophthalmootoencephalica

Hooe

Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis

Adan Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy 2

Itm2b Amyloidosis

Familial Cerebral Amyloid Angiopathy

Itm2b-Related Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy

Familial Dementia, Danish Type

Cerebral Amyloid Angiopathy, Itm2b-Related 2

CAA-ITM2B2

Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis

Dementia, Familial, Danish

Developmental And Epileptic Encephalopathy 4

DEE4

Epileptic Encephalopathy, Early Infantile, 4

Eiee4

Early Infantile Epileptic Encephalopathy 4

Stxbp1-Related Early-Onset Encephalopathy

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 4

Stxbp1 Disorders

Stxbp1 Encephalopathy

Developmental And Epileptic Encephalopathy, Type 4

Early-Infantile Epileptic Encephalopathy 4

Stxbp1 Encephalopathy With Epilepsy

Stxbp1 Epileptic Encephalopathy

Stxbp1-Related Developmental And Epileptic Encephalopathy

Stxbp1-Related Epileptic Encephalopathy

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 4

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
Macaca mulatta FHDC1 VGNC VGNC:72598
Canis familiaris FHDC1 VGNC VGNC:40869
Felis catus FHDC1 VGNC VGNC:107335
Bos taurus FHDC1 VGNC VGNC:28997
Rattus norvegicus FHDC1 RGD RGD:1311955
Mus musculus FHDC1 MGD MGI:2684972