1. Gene
  2. POTEF - POTE ankyrin domain family member F Gene

POTEF - POTE ankyrin domain family member F Gene

Homo sapiens

Also known as ACTB; A26C1B; POTEACTIN; POTE2alpha

Gene ID: 728378 | Gene type: protein coding

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

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)

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  • 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

Orthologs Information

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