1. Gene
  2. PYCARD - PYD and CARD domain containing Gene

PYCARD - PYD and CARD domain containing Gene

Homo sapiens

Also known as ASC; TMS; TMS1; CARD5; TMS-1

Gene ID: 29108 | Gene type: protein coding

About PYCARD

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:31,201,486-31,202,760 (from NCBI)

This gene has 4 transcripts (splice variants), 139 orthologues and 16 paralogues. Broad expression in spleen (RPKM 25.5), colon (RPKM 25.4) and 22 other tissues.

Summary

This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of Caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing Apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PYCARD Products(2)

mRNA Protein Name
NM_013258.5 NP_037390.2 apoptosis-associated speck-like protein containing a CARD isoform a
NM_145182.3 NP_660183.1 apoptosis-associated speck-like protein containing a CARD isoform b

PYCARD Protein Structure

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (5 - 86)

CARD

CARD: Caspase recruitment domain (113 - 194)

  • 0
  • 100
  • 195 a.a.
Protein Preferred Names Protein Names

apoptosis-associated speck-like protein containing a CARD

caspase recruitment domain-containing protein 5

Related Diseases

Diseases Alias
Muckle-Wells Syndrome

MWS

Urticaria-Deafness-Amyloidosis Syndrome

Uda Syndrome

Neutrophilic Urticaria

Urticaria, Deafness And Amyloidosis

Cryopyrin-Associated Periodic Syndrome 2

Caps2

Muckle Wells Syndrome

Urticaria-Deafness-Amyloidosis

Cryopyrin-Associated Periodic Syndromes

Cinca Syndrome

CINCA

Nomid

Cryopyrin-Associated Periodic Syndrome 3

Chronic Neurologic Cutaneous And Articular Syndrome

Multisystem Inflammatory Disease, Neonatal-Onset

Caps3

Chronic Infantile Neurological Cutaneous Articular Syndrome

Infantile-Onset Multisystem Inflammatory Disease

Iomid Syndrome

Neonatal-Onset Multisystem Inflammatory Disease

Nomid Syndrome

Prieur-Griscelli Syndrome

Neonatal Onset Multisystem Inflammatory Disease

Chronic Infantile Neurological, Cutaneous And Articular Syndrome

Iomid

Infantile Onset Multisystem Inflammatory Disease

Prieur Griscelli Syndrome

Chronic Infantile Neurological Cutaneous And Articular Syndrome

Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome

Chronic Infantile Neurologic Cutaneous And Articular Syndrome

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome

Cryopyrin-Associated Periodic Syndromes

Familial Mediterranean Fever

Periodic Fever Syndrome

FMF

Benign Paroxysmal Peritonitis

Periodic Disease

Recurrent Polyserositis

Familial Paroxysmal Polyserositis

Periodic Fever

Familial Mediterranean Fever, Autosomal Recessive

Familial Mediterranean Fever, Ar

Polyserositis, Recurrent

Polyserositis, Familial Paroxysmal

Periodic Peritonitis

Mef

Reimann Periodic Disease

Siegal-Cattan-Mamou Disease

Wolff Periodic Disease

Benign Recurrent Polyserositis

Mediterranean Fever, Familial

ARFMF

Autosomal Recessive Familial Mediterranean Fever

Fever, Mediterranean, Familial, Autosomal Recessive

Hereditary Autoinflammatory Diseases

Fmf - [Familial Mediterranean Fever]

Periodic Polyserositis

Periodic Familial Polyserositis

Periodic Familial Peritonitis

Paroxysmal Polyserositis

Hereditary Amyloid Nephropathy

Familial Recurrent Polyserositis

Familial Non-Neuropathic Amyloidosis

Armenian Disease

Riemann Periodic Disease

Siegal Cattan Mamou Disease

Osteomyelitis
Gout

Gouty Arthritis

Articular Gout

Gouty Arthropathy

Arthritis, Gouty

Arthritis Gouty

Idiopathic Gout

Idiopathic Gout, Unspecified Site

Gouty Bursitis

Uratic Arthritis

Gout Nos

Gouty

Gouty Diathesis

Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria

Fcas

Familial Polymorphous Cold Eruption

Fcu

Cold Hypersensitivity

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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
Mus musculus PYCARD MGD MGI:1931465
Macaca mulatta PYCARD VGNC VGNC:76489
Felis catus PYCARD VGNC VGNC:80676
Rattus norvegicus PYCARD RGD RGD:628637
Others PYCARD NCBI