2. Gene
  3. LHFPL5 - LHFPL tetraspan subfamily member 5 Gene

LHFPL5 - LHFPL tetraspan subfamily member 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TMHS; DFNB67; dJ510O8.8

Gene ID: 222662 | Gene type: protein coding

About LHFPL5

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:35,805,352-35,824,070 (from NCBI)

This gene has 6 transcripts (splice variants), 262 orthologues, 6 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]

LHFPL5 Products(1)

mRNA Protein Name
NM_182548.4 NP_872354.1 LHFPL tetraspan subfamily member 5 protein

LHFPL5 Protein Structure

L_HMGIC_fpl

L_HMGIC_fpl: Lipoma HMGIC fusion partner-like protein (25 - 202)

  • 0
  • 100
  • 200
  • 219 a.a.
Protein Preferred Names Protein Names

LHFPL tetraspan subfamily member 5 protein

LHFP-like protein 5

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 67

DFNB67

Autosomal Recessive Nonsyndromic Deafness 67

Autosomal Recessive Deafness 67

Deafness, Autosomal Recessive, 67

Deafness, Autosomal Recessive, Type 67
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic
Deafness, Autosomal Recessive
Ear Malformation

Cup Ear
Deafness, Autosomal Recessive 6

DFNB6

Neurosensory Nonsyndromic Recessive Deafness 6

Nsrd6

Autosomal Recessive Nonsyndromic Deafness 6

Autosomal Recessive Deafness 6

Deafness, Autosomal Recessive, 6

Deafness Neurosensory Autosomal Recessive 6

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6

Deafness, Autosomal Recessive, Type 6
Deafness, Autosomal Recessive 83

DFNB83

Autosomal Recessive Nonsyndromic Deafness 83

Autosomal Recessive Deafness 83
Deafness, Autosomal Recessive 85

DFNB85

Autosomal Recessive Nonsyndromic Deafness 85

Autosomal Recessive Deafness 85
Deafness, Autosomal Dominant 36

DFNA36

Autosomal Dominant Nonsyndromic Deafness 36

Autosomal Dominant Deafness 36

Deafness, Autosomal Dominant, 36

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36

Deafness, Autosomal Dominant, Type 36
Usher Syndrome, Type Iiia

Usher Syndrome Type 3

Ush3

Usher Syndrome Type 3a

USH3A

Usher Syndrome, Type Iii

Usher Syndrome, Type 3

Usher Syndrome, Type 3a

Usher Syndrome Type Iiia

Usher Syndrome 3a

Usher'S Syndrome Type 3

Usher Syndrome Iii

Usher Syndrome Type Iii
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
Deafness, Autosomal Recessive 16

DFNB16

Autosomal Recessive Nonsyndromic Deafness 16

Autosomal Recessive Deafness 16

Deafness, Autosomal Recessive, 16

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16

Deafness, Autosomal Recessive, Type 16
Deafness, Autosomal Recessive 1b

DFNB1B

Autosomal Recessive Nonsyndromic Deafness 1b

Autosomal Recessive Deafness 1b

Deafness, Autosomal Recessive, 1b

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1b
Deafness, Autosomal Dominant 3b

DFNA3B

Autosomal Dominant Nonsyndromic Deafness 3b

Autosomal Dominant Deafness 3b

Deafness, Autosomal Dominant, 3b

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b

Deafness, Autosomal Dominant, Type 3b
Deafness, Autosomal Recessive 23

DFNB23

Autosomal Recessive Nonsyndromic Deafness 23

Autosomal Recessive Deafness 23

Deafness, Autosomal Recessive, 23

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23

Deafness, Autosomal Recessive, Type 23
Deafness, Autosomal Dominant 2a

DFNA2A

Autosomal Dominant Nonsyndromic Deafness 2a

Autosomal Dominant Deafness 2a

Deafness, Autosomal Dominant, 2a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a

Deafness, Autosomal Dominant, Type 2a
Deafness, Autosomal Recessive 63

DFNB63

Autosomal Recessive Nonsyndromic Deafness 63

Autosomal Recessive Deafness 63

Deafness, Autosomal Recessive, 63

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63

Deafness, Autosomal Recessive, Type 63
Louping Ill
Deafness, Autosomal Dominant 25

DFNA25

Autosomal Dominant Nonsyndromic Deafness 25

Autosomal Dominant Deafness 25

Deafness, Autosomal Dominant, 25

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25

Deafness, Autosomal Dominant, Type 25
Deafness, Autosomal Recessive 12

DFNB12

Deafness, Autosomal Recessive 12, Modifier Of

Autosomal Recessive Nonsyndromic Deafness 12

Autosomal Recessive Deafness 12

Deafness, Autosomal Recessive, 12

Congenital Neurosensory Deafness Autosomal Recessive 12

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

Deafness, Autosomal Recessive, Type 12
Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness
Auditory System Disease

Ear Diseases

Ear And Mastoid Disease
Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07629 LHFPL5 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus LHFPL5 MGD MGI:1915382
Felis catus LHFPL5 VGNC VGNC:102448
Rattus norvegicus LHFPL5 RGD RGD:1359370
Macaca mulatta LHFPL5 VGNC VGNC:74098
Bos taurus LHFPL5 VGNC VGNC:30868
Canis familiaris LHFPL5 VGNC VGNC:42660