TANC2 - tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 Gene

Also Known as rols; ROLSA; IDDALDS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26115

About TANC2

Cytogenetic location: 17q23.2-q23.3 Genomic coordinates (GRCh38): 17:62,966,235-63,427,703 (from NCBI)

This gene has 11 transcripts (splice variants), 280 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 6.5), testis (RPKM 5.9) and 23 other tissues.

Summary

Predicted to be involved in dense core granule cytoskeletal transport; regulation of dendritic spine development; and regulation of dendritic spine morphogenesis. Predicted to act upstream of or within in utero embryonic development. Located in dendritic spine. [provided by Alliance of Genome Resources, Apr 2022]

TANC2 Products (3)

mRNA Protein Name
NM_001394998.1 NP_001381927.1 protein TANC2 isoform 2
NM_001411076.1 NP_001398005.1 protein TANC2 isoform 3
NM_025185.4 NP_079461.2 protein TANC2 isoform 1
Cellular Component GO Annotation Evidence References Source
located in dendritic spine IDA
IDA: Inferred from direct assay
30021165 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TANC2 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (922 - 1013)

Ank

Ank: Ankyrin repeat (1034 - 1063)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1072 - 1159)

Ank

Ank: Ankyrin repeat (1165 - 1196)

TPR_11

TPR_11: TPR repeat (1295 - 1356)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1990 a.a.
Protein Preferred Names Protein Names

protein TANC2

  • putative ankyrin-repeat containing protein

Related Diseases

Diseases Alias
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
  • IDDALDS

  • Intellectual Developmental Disorder With Autistic Features And Language Delay Without Seizures

Non-Specific Syndromic Intellectual Disability
  • Complex Neurodevelopmental Disorder

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

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 TANC2 VGNC VGNC:47099
Felis catus TANC2 VGNC VGNC:65949
Rattus norvegicus TANC2 RGD RGD:1309285
Bos taurus TANC2 VGNC VGNC:35592
Mus musculus TANC2 MGD MGI:2444121
Macaca mulatta TANC2 VGNC VGNC:99281
Others TANC2 NCBI