2. Gene
  3. ABHD16A - abhydrolase domain containing 16A, phospholipase Gene

ABHD16A - abhydrolase domain containing 16A, phospholipase Gene

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

Also known as BAT5; NG26; PP199; SPG86; hBAT5; D6S82E

Gene ID: 7920 | Gene type: protein coding

About ABHD16A

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,686,955-31,703,324 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 193 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 19.9), prostate (RPKM 13.9) and 25 other tissues.

Summary

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

ABHD16A Products(2)

mRNA Protein Name
NM_001177515.2 NP_001170986.1 phosphatidylserine lipase ABHD16A isoform b
NM_021160.3 NP_066983.1 phosphatidylserine lipase ABHD16A isoform a

ABHD16A Protein Structure

Abhydrolase_5

Abhydrolase_5: Alpha/beta hydrolase family (301 - 444)

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  • 558 a.a.
Protein Preferred Names Protein Names

phosphatidylserine lipase ABHD16A

HLA-B associated transcript 5

Related Diseases

Diseases Alias
Spastic Paraplegia 86, Autosomal Recessive

SPG86

Hereditary Spastic Paraplegia 86

Spastic Paraplegia 86 Autosomal Recessive

Doid:0112342
Complex Hereditary Spastic Paraplegia

Complex Hsp

Complex Spg

Complex Familial Spastic Paraplegia

Complicated Hsp

Complicated Spg

Complicated Familial Spastic Paraplegia

Complicated Hereditary Spastic Paraplegia
Autosomal Recessive Complex Spastic Paraplegia

Autosomal Recessive Complex Hsp

Autosomal Recessive Complex Spg

Autosomal Recessive Complicated Hsp

Autosomal Recessive Complicated Spg

Autosomal Recessive Complicated Spastic Paraplegia
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Pharc Syndrome

PHARC

Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

Peripheral Neuropathy, Fiskerstrand Type

Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Oliver-Mcfarlane Syndrome

Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome

OMCS

Long Eyelashes-Intellectual Disability Syndrome

Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina

Eyelashes, Long, With Mental Retardation

Eyelashes Long Mental Retardation

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina

Eyelashes, Long With Intellectual Disability

Oliver Mcfarlane Syndrome

Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature

Trichomegaly, Retina Pigmentary Degeneration, Dwarfism

Trichomegaly Retina Pigmentary Degeneration Dwarfism
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome

SRTD6

Srps2a

Short Rib-Polydactyly Syndrome, Majewski Type

Polydactyly With Neonatal Chondrodystrophy, Type Ii

Short Rib-Polydactyly Syndrome Type Iia

Short Rib-Polydactyly Syndrome Type 2

Short Rib-Polydactyly Syndrome Type Ii

Short Rib-Polydactyly Syndrome, Type Ii

Srps, Type Ii

Short Rib-Polydactyly Syndrome, Type Iia

Polydactyly With Neonatal Chondrodystrophy Type 2

Srps Type 2

Short Rib-Polydactyly Syndrome Majewski Type

Polydactyly With Neonatal Chondrodystrophy Type Ii

Short Rib-Polydactyly Syndrome 2a

Srps Type Ii
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
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 (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-120299 KC01 / Unkown
HY-RS00090 ABHD16A Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ABHD16A VGNC VGNC:37464
Felis catus ABHD16A VGNC VGNC:59481
Bos taurus ABHD16A VGNC VGNC:25495
Macaca mulatta ABHD16A VGNC VGNC:69393
Mus musculus ABHD16A MGD MGI:99476
Rattus norvegicus ABHD16A RGD RGD:1303164