POTEF - POTE ankyrin domain family member F Gene

Also Known as ACTB; A26C1B; POTEACTIN; POTE2alpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 728378

About POTEF

This gene has 2 transcripts (splice variants), 17 orthologues and 16 paralogues. Biased expression in testis (RPKM 2.4), prostate (RPKM 1.0) and 12 other tissues.

Summary

Involved in retina homeostasis. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

POTEF Products (1)

mRNA Protein Name
NM_001099771.2 NP_001093241.1 POTE ankyrin domain family member F

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POTEF Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (164 - 234)

Ank

Ank: Ankyrin repeat (238 - 270)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (286 - 361)

CCDC144C

CCDC144C: CCDC144C protein coiled-coil region (648 - 701)

Actin

Actin: Actin (703 - 1074)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1075 a.a.
Protein Preferred Names Protein Names

POTE ankyrin domain family member F

  • ANKRD26-like family C member 1B

Related Diseases

Diseases Alias
Pericytoma With T(7;12)
Baraitser-Winter Syndrome

  • Fryns-Aftimos Syndrome

  • Brws

  • Cerebro-Frontofacial Syndrome, Type 3

  • Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

  • Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

  • Trigonocephaly Ptosis Coloboma

  • Trigonocephaly Ptosis Intellectual Disability

  • Cerebrofrontofacial Syndrome Type 3
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis

  • Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Intellectual Developmental Disorder, And Leber Congenital Amaurosis

  • Shilca Syndrome

  • SHILCA

  • Spondyloepiphyseal Dysplasia-Sensorineural Hearing Loss-Intellectual Disability-Leber Congenital Amaurosis Syndrome
Trachea Leiomyoma

  • Tracheal Neoplasms

  • Leiomyoma Of The Trachea

  • Tracheal Neoplasm

  • Tracheal Leiomyoma
Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction

  • Left Ventricular Noncompaction 3

  • Dilated Cardiomyopathy 1c

  • CMD1C

  • Cardiomyopathy, Hypertrophic, 24

  • Dilated Cardiomyopathy With Left Ventricular Noncompaction

  • Cardiomyopathy, Dilated, 1c, With Or Without Lvnc

  • Cmdc1

  • Dilated Cardiomyopathy 1c With Or Without Left Ventricular Noncompaction

  • Cardiomyopathy, Dilated 1c, With Or Without Left Ventricular Non-Compaction

  • Cardiomyopathy Dilated With Left Ventricular Noncompaction

  • Cardiomyopathy, Familial Hypertrophic 24

  • CMH24

  • Left Ventricular Non-Compaction 3

  • LVNC3

  • Cardiomyopathy, Dilated 1c

  • Familial Hypertrophic Cardiomyopathy 24

  • Cardiomyopathy, Dilated, 1c
Silo Filler'S Disease

  • Silo Filler Disease

  • Silo-Fillers' Disease
Parkinson Disease, Late-Onset

  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS10891 POTEF Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus POTEF MGD MGI:1914825
Rattus norvegicus POTEF RGD RGD:1584390