2. Gene
  3. FAAP24 - FA core complex associated protein 24 Gene

FAAP24 - FA core complex associated protein 24 Gene

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

Also known as C19orf40

Gene ID: 91442 | Gene type: protein coding

About FAAP24

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:32,972,242-32,978,229 (from NCBI)

This gene has 9 transcripts (splice variants) and 213 orthologues. Broad expression in testis (RPKM 3.8), lymph node (RPKM 1.3) and 23 other tissues.

Summary

FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

FAAP24 Products(2)

mRNA Protein Name
NM_001300978.2 NP_001287907.1 Fanconi anemia core complex-associated protein 24 isoform 2
NM_152266.5 NP_689479.1 Fanconi anemia core complex-associated protein 24 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables chromatin binding IDA
IDA: Inferred from direct assay
20347429 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17289582 GOA
Biological Process GO Annotation Evidence Reference Source
involved in interstrand cross-link repair IDA
IDA: Inferred from direct assay
20347429 GOA
Cellular Component GO Annotation Evidence Reference Source
part of FANCM-MHF complex IPI
IPI: Inferred from physical interaction
20347429 GOA
part of Fanconi anaemia nuclear complex IDA
IDA: Inferred from direct assay
20347428 GOA
located in chromatin IDA
IDA: Inferred from direct assay
20347429 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

FAAP24 Protein Structure

HHH_2

HHH_2: Helix-hairpin-helix motif (166 - 214)

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

Fanconi anemia core complex-associated protein 24

Fanconi anemia core complex associated protein 24

Related Diseases

Diseases Alias
Fanconi Anemia, Complementation Group O

Fanconi Anemia Complementation Group O

FANCO
Fanconi Anemia, Complementation Group T

Fanconi Anemia Complementation Group T

FANCT
Fanconi Anemia, Complementation Group Q

Fanconi Anemia Complementation Group Q

FANCQ
Fanconi Anemia, Complementation Group R

Fanconi Anemia Complementation Group R

FANCR
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Fanconi Anemia, Complementation Group I

Fanconi Anemia Complementation Group I

FANCI
Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2
Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2

FANCD2

Fad2

Fa4

Fancd

Fanconi Pancytopenia Type 4

Fanconi Anemia, Complementation Group D

Fanconi Pancytopenia, Type 4

Facd

Fanconi Anemia Complementation Group D
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum
Interstitial Nephritis, Karyomegalic

Karyomegalic Interstitial Nephritis

KMIN

Kin

Systemic Karyomegaly

Karyomegalic Tubulointerstitial Nephritis

Ktn
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
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-RS04655 FAAP24 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus FAAP24 VGNC VGNC:62033
Mus musculus FAAP24 MGD MGI:2142208
Canis familiaris FAAP24 VGNC VGNC:40557
Rattus norvegicus FAAP24 RGD RGD:1564719
Bos taurus FAAP24 VGNC VGNC:28694
Macaca mulatta FAAP24 VGNC VGNC:72388