FOXI1 - forkhead box I1 Gene

Homo sapiens

Also known as HFH3; FKH10; HFH-3; FKHL10; FREAC6; FREAC-6

Gene ID: 2299 | Gene type: protein coding

About FOXI1

Cytogenetic location: 5q35.1 Genomic coordinates (GRCh38): 5:170,105,897-170,109,737 (from NCBI)

This gene has 2 transcripts (splice variants), 222 orthologues, 4 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 10.3), salivary gland (RPKM 2.7) and 1 other tissue.

Summary

This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a Proton Pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]

FOXI1 Products(2)

mRNA	Protein	Name
NM_012188.5	NP_036320.2	forkhead box protein I1 isoform a
NM_144769.4	NP_658982.1	forkhead box protein I1 isoform b

FOXI1 Protein Structure

Forkhead

0
100
200
300
378 a.a.

Protein Preferred Names

Protein Names

forkhead box protein I1

HNF-3/fork-head homolog-3

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct	DFNB4
Neurosensory Nonsyndromic Recessive Deafness 4	Enlarged Vestibular Aqueduct Syndrome
Nsrd4	Autosomal Recessive Nonsyndromic Deafness 4
Dilated Vestibular Aqueduct	Dva
Enlarged Vestibular Aqueduct, Digenic	Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
Large Vestibular Aqueduct Syndrome	Deafness, Autosomal Recessive, 4
Deafness Neurosensory Autosomal Recessive 4	Eva
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Pendred Syndrome

Goiter-Deafness Syndrome	Deafness With Goiter
PDS	Thyroid Dyshormonogenesis 2b
Tdh2b	Autosomal Recessive Sensorineural Hearing Impairment And Goiter
Pendred'S Syndrome	Thyroid Hormonogenesis, Genetic Defect In, 2b
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b	Congenital Hypothyroidism Due To Dyshormonogenesis 2b
Genetic Defect In Thyroid Hormonogenesis 2b	Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
Goiter-Hearing Loss Syndrome	Goitre-Deafness Syndrome
Goitre Deafness

Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss

Autosomal Recessive Distal Renal Tubular Acidosis	Autosomal Recessive Distal Rta
Renal Tubular Acidosis, Distal, Autosomal Recessive	DRTA3
Rtadr	Ar Drta
Distal Renal Tubular Acidosis 3, With Or Without Sensorineural Hearing Loss	Renal Tubular Acidosis, Distal, Autosomal Recessive, With Late-Onset Sensorineural Hearing Loss, Included
Rta, Distal, Autosomal Recessive	Renal Tubular Acidosis, Autosomal Recessive With Preserved Hearing
Distal Renal Tubular Acidosis With Late-Onset Sensorineural Hearing Loss	Distal Renal Tubular Acidosis With Preserved Hearing
Acidosis, Tubular, Renal, Distal, Autosomal Recessive

Inner Ear Disease

Labyrinthine Dysfunction	Diseases Of Inner Ear
Labyrinthine Disease	Abnormality Of The Inner Ear
Labyrinth Diseases	Labyrinthine Disorder
Nonfunctioning Labyrinth	Labyrinthine Loss Of Function
Labyrinthine Syndrome	Labyrinthine Disorder Nos

Vestibular Disease

Vestibular Diseases	Vertigo, Vestibular Disorder
Vestibular Disorder	Diseases Of Inner Ear

Renal Tubular Acidosis

Acidosis Renal Tubular	Acidosis, Renal Tubular
Lightwood-Albright Syndrome	Lightwood Syndrome
Idiopathic Infantile Hypercalcemia - Mild Form	Kidney Tubular Acidosis
Renal Tubule Acidosis	Kidney Acidosis
Renal Acidosis	Renal Hyperchloremic Acidosis
Rta - [Renal Tubular Acidosis]

Deafness, Autosomal Recessive 15

DFNB15	Dfnb72
Dfnb95	Deafness, Autosomal Recessive 72
Autosomal Recessive Nonsyndromic Deafness 15	Deafness, Autosomal Recessive 95
Autosomal Recessive Deafness 15	Autosomal Recessive Deafness 72
Autosomal Recessive Deafness 95	Deafness, Autosomal Recessive, 15
Deafness Autosomal Recessive 72	Deafness Autosomal Recessive 95
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15
Deafness, Autosomal Recessive, Type 15

Renal Oncocytoma

Oncocytoma, Renal	Oncocytoma Of Kidney
Renal Epithelial Oncocytic Tumor	Oncocytoma Kidney
Oncocytoma Renal	Kidney Oncocytoma

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens	CBAVD
Cavd	Congenital Bilateral Aplasia Of Vas Deferens
Congenital Bilateral Absence Of The Vas Deferens	Congenital Bilateral Agenesis Of Vas Deferens
Absence Of Vas Deferens	Absent Vasa
Congenital Absence Of Vas Deferens	Congenital Aplasia Of Vas Deferens
Absent Vas Deferens	Vas Deferens, Congenital Bilateral Absence

Branchiootic Syndrome

Bo Syndrome	Branchiootic Dysplasia
Bor	Bo Syndrome 1
Bos1	Branchiootic Syndrome 1

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome	Bor Syndrome
Branchiootorenal Dysplasia	Melnick-Fraser Syndrome
Branchiootorenal Spectrum Disorders	Branchio-Otorenal Dysplasia
Branchio Oto Renal Syndrome	Branchiootorenal/Branchiootic Syndrome
Bo Syndrome	Bor
Bos	Branchio-Otorenal Syndrome
Branchiootic Syndrome	Branchiootorenal Syndrome
Branchiootic Syndrome 1

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma	Chromophobe Carcinoma Of Kidney
Kidney Chromophobe	Renal Cell Carcinoma, Chromophobe Cell
Crcc	Chrcc
Chromophobe Renal Cell Adenocarcinoma	Chromophobe Renal Carcinoma
Chromophobe Carcinoma

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05053	FOXI1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FOXI1	RGD	RGD:1307421
Bos taurus	FOXI1	VGNC	VGNC:29087
Felis catus	FOXI1	VGNC	VGNC:62335
Mus musculus	FOXI1	MGD	MGI:1096329
Canis familiaris	FOXI1	VGNC	VGNC:40951
Macaca mulatta	FOXI1	VGNC	VGNC:72700

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