2. Gene
  3. TTC4 - tetratricopeptide repeat domain 4 Gene

TTC4 - tetratricopeptide repeat domain 4 Gene

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

Also known as CNS1

Gene ID: 7268 | Gene type: protein coding

About TTC4

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:54,715,861-54,742,657 (from NCBI)

This gene has 4 transcripts (splice variants), 198 orthologues and 18 paralogues. Ubiquitous expression in testis (RPKM 12.6), ovary (RPKM 7.5) and 25 other tissues.

Summary

This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]

TTC4 Products(2)

mRNA Protein Name
NM_001291333.2 NP_001278262.1 tetratricopeptide repeat protein 4 isoform 2
NM_004623.5 NP_004614.3 tetratricopeptide repeat protein 4 isoform 1

TTC4 Protein Structure

TPR_11

TPR_11: TPR repeat (77 - 148)

  • 0
  • 100
  • 200
  • 300
  • 387 a.a.
Protein Preferred Names Protein Names

tetratricopeptide repeat protein 4

TPR repeat protein 4

Related Diseases

Diseases Alias
Sporadic Breast Cancer

Sporadic Breast Carcinoma
Intellectual Developmental Disorder, Autosomal Dominant 29

MRD29

Autosomal Dominant Non-Syndromic Intellectual Disability 29

Mental Retardation, Autosomal Dominant 29

Autosomal Dominant Intellectual Developmental Disorder 29

Autosomal Dominant Mental Retardation 29

Mental Retardation, Autosomal Dominant, Type 29
Intellectual Developmental Disorder, Autosomal Dominant 10

MRD10

Mental Retardation, Autosomal Dominant 10

Autosomal Dominant Non-Syndromic Intellectual Disability 10

Autosomal Dominant Intellectual Developmental Disorder 10

Autosomal Dominant Mental Retardation 10

Mental Retardation, Autosomal Dominant, Type 10
Intellectual Developmental Disorder, Autosomal Dominant 5

MRD5

Autosomal Dominant Non-Syndromic Intellectual Disability 5

Intellectual Disability, Autosomal Dominant 5

Mental Retardation, Autosomal Dominant 5

Autosomal Dominant Intellectual Developmental Disorder 5

Syngap1-Related Non-Syndromic Intellectual Disability

Autosomal Dominant Intellectual Disability 5

Syngap1 Syndrome

Syngap1-Related Nsid

Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia And Autism
Testicular Leukemia
Crigler-Najjar Syndrome, Type I

Crigler-Najjar Syndrome

Crigler-Najjar Syndrome Type 1

Bilirubin Udp Glucuronyl Transferase Deficiency

Crigler Najjar Syndrome

Crigler Najjar Syndrome, Type 1

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

Bilirubin-Ugt Deficiency

Hyperbilirubinemia, Crigler-Najjar Type I

Hblrcn1

Familial Nonhemolytic Unconjugated Hyperbilirubinemia

Hereditary Unconjugated Hyperbilirubinemia

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

Bilirubin-Ugt Deficiency Type 1

Crigler-Najjar Syndrome 1

CN1

Cn-I

Crigler-Najjar Syndrome Type I

Hereditary Unconjugated Hyperbilirubinaemia

Ugt Deficiency

Bilirubin Glucuronosyltransferase Deficiency

Crigler-Najjar Disease Or Syndrome

Deficiency Of Glucuronosyltransferase

Glucuronyl Transferase Deficiency

Glucuronyltransferase Deficiency

Udp Glucuronyl Transferase Deficiency

Cns - [Crigler-Najjar Syndrome]

Congenital Familial Nonhemolytic Jaundice
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked

IPEX

X-Linked Autoimmunity-Allergic Dysregulation Syndrome

Xlaad

Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked

Ipex Syndrome

Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome

Iddm-Secretory Diarrhea Syndrome

Dmsd

Autoimmunity-Immunodeficiency Syndrome, X-Linked

Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy

Xpid

Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea

Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome

Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked

Autoimmune Enteropathy Type 1

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly

Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome

Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked

Autoimmunity-Immunodeficiency Syndrome X-Linked

Iddm Secretory Diarrhea Syndrome

Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome

X-Linked Autoimmunity-Immunodeficiency Syndrome

Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome

X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea
Cranial Nerve Palsy

Cranial Nerve Paralysis

Cranial Nerve Diseases

Cranial Nerve Palsies
Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma
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-RS15215 TTC4 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus TTC4 VGNC VGNC:36478
Rattus norvegicus TTC4 RGD RGD:1308529
Canis familiaris TTC4 VGNC VGNC:47959
Macaca mulatta TTC4 VGNC VGNC:78668
Mus musculus TTC4 MGD MGI:1919604
Felis catus TTC4 VGNC VGNC:66673