1. Gene
  2. ASB10 - ankyrin repeat and SOCS box containing 10 Gene

ASB10 - ankyrin repeat and SOCS box containing 10 Gene

Homo sapiens

Also known as GLC1F

Gene ID: 136371 | Gene type: protein coding

About ASB10

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,175,698-151,187,792 (from NCBI)

This gene has 4 transcripts (splice variants), 194 orthologues, 7 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 1.4), prostate (RPKM 0.5) and 1 other tissue.

Summary

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]

ASB10 Products(3)

mRNA Protein Name
NM_001142459.2 NP_001135931.2 ankyrin repeat and SOCS box protein 10 isoform 1
NM_001142460.1 NP_001135932.2 ankyrin repeat and SOCS box protein 10 isoform 2
NM_080871.4 NP_543147.2 ankyrin repeat and SOCS box protein 10 isoform 3

ASB10 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (120 - 209)

Ank

Ank: Ankyrin repeat (216 - 245)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (269 - 358)

SOCS_box

SOCS_box: SOCS box (422 - 460)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 467 a.a.
Protein Preferred Names Protein Names

ankyrin repeat and SOCS box protein 10

Related Diseases

Diseases Alias
Glaucoma 1, Open Angle, F

GLC1F

Glaucoma, Primary Open Angle, Adult-Onset

Adult-Onset Primary Open Angle Glaucoma

Poag

Primary Open Angle Glaucoma 1f

Glaucoma, Primary Open Angle

Open-Angle Glaucoma

Glaucoma Simplex

Pigmentary Glaucoma

Wide-Angle Glaucoma

Glaucoma, Open-Angle

Open Angle Glaucoma

Glaucoma Open-Angle

Chronic Simple Glaucoma

Coag - [Chronic Open-Angle Glaucoma]

Csg - [Chronic Simple Glaucoma]

Poag - [Primary Open-Angle Glaucoma]

Oag - [Open-Angle Glaucoma]

Chronic Glaucoma

Chronic Open Angle Glaucoma

Simple Glaucoma

Chronic Noncongestive Glaucoma

Ltg - [Low Tension Glaucoma]

Noncongestive Glaucoma

Nonobstructive Glaucoma

Normal Pressure Glaucoma

Primary Low Tension Glaucoma

Low-Tension Glaucoma

Residual Stage Low Tension Glaucoma

Open Cleft Glaucoma

Non-Syndromic X-Linked Intellectual Disability 103

Mrx103

X-Linked Mental Retardation 103

Syndromic X-Linked Intellectual Disability Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type

Intellectual Disability, X-Linked Syndromic, Turner Type

Brooks-Wisniewski-Brown Syndrome

Mental Retardation And Macrocephaly Syndrome

Mrxst

X-Linked Intellectual Disability, Brooks Type

Mental Retardation, X-Linked, Syndromic, Turner Type

Ataxia, Sensory, 1, Autosomal Dominant

Autosomal Dominant Sensory Ataxia 1

SNAX1

Adsa

Ataxia, Sensory, Type 1, Autosomal Dominant

Ataxia, Sensory, Autosomal Dominant

Glaucoma, Normal Tension

Low Tension Glaucoma

Glaucoma, Normal Tension, Susceptibility To

Normal Tension Glaucoma

Ntg

Glaucoma, Normal Pressure

NPG

Glaucoma, Normal Pressure, Susceptibility To

Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Non-Syndromic X-Linked Intellectual Disability 101

Mrx101

X-Linked Mental Retardation 101

Neuronopathy, Distal Hereditary Motor, Type Iid

HMN2D

Hmn Iid

Dhmn2d

Distal Hereditary Motor Neuronopathy Type 2d

Distal Hereditary Motor Neuropathy Type Iid

Neuronopathy, Distal Hereditary Motor, Type 2d

Neuropathy, Distal Hereditary Motor, Type Iid

Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant

Distal Spinal Muscular Atrophy With Calf Predominance

Neuronopathy, Distal Hereditary Motor, 2d

Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant

Dhmn Iid

Neuropathy, Motor, Distal, Hereditary, Type 2d

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Primary Congenital Glaucoma
Ocular Pigment Dispersion With Or Without Glaucoma

Pigment Dispersion Syndrome

Glaucoma-Related Pigment Dispersion Syndrome

OPDG

Pds

Glaucoma, Pigment-Dispersion Type

Gpds1

Pigment-Dispersion Type Glaucoma

Pigment-Dispersion Syndrome

Glaucoma, Open-Angle

Charcot-Marie-Tooth Disease, Axonal, Type 2r

Charcot-Marie-Tooth Disease Type 2r

CMT2R

Charcot-Marie-Tooth Neuropathy, Type 2r

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r

Charcot-Marie-Tooth Disease, Type 2r

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r

Charcot-Marie-Tooth Neuropathy Type 2r

Charcot-Marie-Tooth Disease 2r

Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r

Charcot-Marie-Tooth Disease Axonal Type 2r

Charcot-Marie-Tooth Neuropathy Axonal Type 2r

Syndromic X-Linked Intellectual Disability Cabezas Type

Cabezas Syndrome

Syndromic X-Linked Mental Retardation 15

Mental Retardation, X-Linked, Syndromic 15

Mrss

Mrxs15

Mrxsc

X-Linked Mental Retardation With Short Stature

X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait

Mental Retardation, X-Linked, With Short Stature

Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Kaufman Oculocerebrofacial Syndrome

KOS

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Oculocerebrofacial Syndrome, Kaufman Type

Bpids

Blepharophimosis Ptosis Intellectual Disability Syndrome

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet

Bpid Syndrome

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii

Distal Hereditary Motor Neuropathy Type 2

Distal Hereditary Motor Neuropathy Type Ii

Hmn Ii

Hmn2

Distal Hereditary Motor Neuronopathy, Type Ii

Distal Spinal Muscular Atrophy Type 2

Dhmn2

Dsma2

Neuropathy, Motor, Distal, Hereditary, Type Ii

Spinal Muscular Atrophy, Jerash Type

Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Canis familiaris ASB10 VGNC VGNC:38155
Rattus norvegicus ASB10 RGD RGD:1562922
Felis catus ASB10 VGNC VGNC:69350
Mus musculus ASB10 MGD MGI:2152836
Bos taurus ASB10 VGNC VGNC:26187
Macaca mulatta ASB10 VGNC VGNC:80794