Chromosome 4

Genes Linked with Cancer (88)

How to use this data table Click on the gene name for detailed information. Type in the Search box e.g. 'germline' or 'Breast Cancer' to search within Chromosome 4; or Sort by clicking on a column heading e.g. 'Gene'.

Gene Location Aliases Abnormalities Implicated in
PHOX2B 4p13 PMX2B, NBLST2, NBPhoxGermline & Somatic-Familial Neuroblastoma
-Neuroblastoma
UCHL1 4p13 NDGOA, PARK5, PGP95, SPG79, PGP9.5, Uch-L1, HEL-117, PGP 9.5, HEL-S-53-Cervical Cancer
-Colorectal Cancer
-Esophageal Cancer
-Lung Cancer
-Non-Hodgkin Lymphoma
-Pancreatic Cancer
-Stomach Cancer
TLR1 4p14 TIL, CD281, rsc786, TIL. LPRS5-Breast Cancer
-Cervical Cancer
-Multiple Myeloma
-Prostate Cancer
TLR6 4p14 CD286-Breast Cancer
-Cervical Cancer
-Prostate Cancer
RFC1 4p14 A1, RFC, PO-GA, RECC1, MHCBFB, RFC140-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Cervical Cancer
-Colorectal Cancer
RHOH 4p14 TTF, ARHHSomatic-Chronic Lymphocytic Leukemia
-Non-Hodgkin Lymphoma
-Skin Cancer
PCDH7 4p15.1 BHPCDH, BH-Pcdh, PPP1R120-Bone Cancer (primary)
-Colorectal Cancer
-Prostate Cancer
-Transitional Cell Cancer of the Renal Pelvis and Ureter
SLC34A2 4p15.2 NPTIIb, NAPI-3B, NAPI-IIbSomatic
Fusion
-Kidney Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Ovarian Cancer
-Thyroid Cancer
RBPJ 4p15.2 SUH, csl, AOS3, CBF1, KBF2, RBP-J, RBPJK, IGKJRB, RBPSUH, IGKJRB1-Colorectal Cancer
PPARGC1A 4p15.2 LEM6, PGC1, PGC1A, PGC-1v, PPARGC1, PGC-1alpha, PGC-1(alpha)-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Lung Cancer
-Ovarian Cancer
-Prostate Cancer
SLIT2 4p15.31 SLIL3, Slit-2-Breast Cancer
-Colorectal Cancer
-Kidney Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
CD38 4p15.32 ADPRC1, ADPRC 1-Acute Myeloid Leukaemia
-Chronic Lymphocytic Leukemia
-Lymphoma
S100P 4p16.1 MIG9-Bladder Cancer
-Breast Cancer
-Cervical Cancer
-Colorectal Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Pancreatic Cancer
-Prostate Cancer
-Stomach Cancer
TACC3 4p16.3 ERIC1, ERIC-1-Bladder Cancer
-Brain Tumours, Childhood
-Cervical Cancer
-Lung Cancer
-Multiple Myeloma
NSD2 4p16.3 WHS, TRX5, KMT3F, KMT3G, MMSET, WHSC1, REIIBPSomatic-Mantle-Cell Lymphoma
-Multiple Myeloma
CTBP1 4p16.3 BARS-Adenomatous Polyposis Coli
-Breast Cancer
-Colorectal Cancer
-Prostate Cancer
FGFR3 4p16.3 ACH, CEK2, JTK4, CD333, HSFGFR3EXSomatic-Bladder Cancer
-Cervical Cancer
-Lung Cancer
-Multiple Myeloma
-Skin Cancer
-Testicular Cancer
-Transitional Cell Cancer of the Renal Pelvis and Ureter
-Urinary System Cancers
REST 4q12 WT6, XBR, NRSF-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Medulloblastoma
-Neuroblastoma
-Ovarian Cancer
-Prostate Cancer
CLOCK 4q12 KAT13D, bHLHe8-Breast Cancer
-Colorectal Cancer
-Stomach Cancer
IGFBP7 4q12 AGM, PSF, TAF, FSTL2, IBP-7, MAC25, IGFBP-7, RAMSVPS, IGFBP-7v, IGFBPRP1-Brain Tumours, Childhood
-Breast Cancer
-Colorectal Cancer
-Esophageal Cancer
-Liver Cancer
-Melanoma
-Skin Cancer
-Stomach Cancer
CHIC2 4q12 BTLSomatic-Leukaemia
KDR 4q12 FLK1, CD309, VEGFR, VEGFR2Somatic-Breast Cancer
-Eye Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
FIP1L1 4q12 Rhe, FIP1, hFip1Somatic
Deletion / Translocation
-Leukaemia
PDGFRA 4q12 CD140A, PDGFR2, PDGFR-2Somatic
Deletion / Translocation
-Cervical Cancer
-Gastrointestinal Cancers
-Gastrointestinal Stromal Tumors
-Leukaemia
-Skin Cancer
-Stomach Cancer
-Testicular Cancer
-Thyroid Cancer
KIT 4q12 PBT, SCFR, C-Kit, CD117Germline & Somatic-Acute Myeloid Leukaemia
-Bladder Cancer
-Eye Cancer
-Gastrointestinal Cancers
-Gastrointestinal Stromal Tumors
-Lung Cancer
-Melanoma
-Osteosarcoma
-Skin Cancer
-Soft Tissue Sarcoma
-Thyroid Cancer
-Uterine Sarcoma
-Vulvar Cancer
EPHA5 4q13.1-q13.2 EK7, CEK7, EHK1, HEK7, EHK-1, TYRO4-Astrocytoma, Childhood
-Brain Tumours, Childhood
-Breast Cancer
-Liver Cancer
UGT2B15 4q13.2 HLUG4, UGT2B8, UDPGTH3, UDPGT 2B8, UDPGT2B15-Breast Cancer
-Prostate Cancer
UGT2B7 4q13.2 UGT2B9, UDPGTH2, UDPGT2B7, UDPGTh-2, UDPGT 2B7, UDPGT 2B9-Bladder Cancer
-Breast Cancer
-Liver Cancer
-Prostate Cancer
UGT2B17 4q13.2 BMND12, UDPGT2B17-Bladder Cancer
-Breast Cancer
-Chronic Lymphocytic Leukemia
-Lung Cancer
-Prostate Cancer
GNRHR 4q13.2 HH7, GRHR, LRHR, LHRHR, GNRHR1-Adrenocortical Cancer
-Breast Cancer
-Ovarian Cancer
-Prostate Cancer
-Uterine Sarcoma
CXCL3 4q13.3 GRO3, GROg, MIP2B, SCYB3, MIP-2b, CINC-2b
CXCL1 4q13.3 FSP, GRO1, GROa, MGSA, NAP-3, SCYB1, MGSA-a-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Melanoma
-Ovarian Cancer
CXCL2 4q13.3 GRO2, GROb, MIP2, MIP2A, SCYB2, MGSA-b, MIP-2a, CINC-2a-Breast Cancer
-Colorectal Cancer
CXCL5 4q13.3 SCYB5, ENA-78-Bladder Cancer
-Breast Cancer
-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Pancreatic Cancer
-Prostate Cancer
MUC7 4q13.3 MG2-Bladder Cancer
-Colorectal Cancer
-Liver Cancer
-Lung Cancer
-Pancreatic Cancer
-Transitional Cell Cancer of the Renal Pelvis and Ureter
AREG 4q13.3 AR, SDGF, AREGB, CRDGF-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Soft Tissue Sarcoma
AFP 4q13.3 AFPD, FETA, HPAFP-Liver Cancer
EREG 4q13.3 ER, Ep, EPR-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
RASSF6 4q13.3
Methylation
-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Neuroblastoma
CXCL13 4q21.1 BLC, BCA1, ANGIE, BCA-1, BLR1L, ANGIE2, SCYB13-Breast Cancer
-Ovarian Cancer
-Pancreatic Cancer
CCNG2 4q21.1 -Brain Tumours, Childhood
-Breast Cancer
-Prostate Cancer
CXCL9 4q21.1 CMK, MIG, Humig, SCYB9, crg-10-Breast Cancer
-Chronic Lymphocytic Leukemia
-Melanoma
-Skin Cancer
CXCL11 4q21.1 IP9, H174, IP-9, b-R1, I-TAC, SCYB11, SCYB9B-Acute Myeloid Leukaemia
-Bladder Cancer
-Breast Cancer
-Cervical Cancer
-Kidney Cancer
-Lung Cancer
-Melanoma
-Prostate Cancer
-Rhabdomyosarcoma
CXCL10 4q21.1 C7, IFI10, INP10, IP-10, crg-2, mob-1, SCYB10, gIP-10-Breast Cancer
-Liver Cancer
-Lung Cancer
-Melanoma
HPSE 4q21.23 HPA, HPA1, HPR1, HSE1, HPSE1-Brain Tumours, Childhood
-Breast Cancer
-Liver Cancer
-Lung Cancer
-Melanoma
-Pancreatic Cancer
-Stomach Cancer
PTPN13 4q21.3 PNP1, FAP-1, PTP1E, PTPL1, PTPLE, PTP-BL, hPTP1E, PTP-BAS-Breast Cancer
-Colorectal Cancer
-Lung Cancer
AFF1 4q21.3-q22.1 AF4, PBM1, MLLT2Somatic
Translocation
-Acute Lymphocytic Leukaemia (ALL)
-Acute Lymphocytic Leukemia (ALL), child
PKD2 4q22.1 PC2, PKD4, Pc-2, APKD2, TRPP2
IBSP 4q22.1 BSP, BNSP, SP-II, BSP-II-Bone Cancer (primary)
-Breast Cancer
-Cervical Cancer
-Osteosarcoma
ABCG2 4q22.1 MRX, MXR, ABCP, BCRP, BMDP, MXR1, ABC15, BCRP1, CD338, GOUT1, MXR-1, CDw338, UAQTL1, EST157481-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Lung Cancer
-Oral Cavity Cancer
-Osteosarcoma
-Pancreatic Cancer
SPP1 4q22.1 OPN, BNSP, BSPI, ETA-1-Bone Cancer (primary)
-Breast Cancer
-Eye Cancer
-Liver Cancer
-Lung Cancer
-Uterine Sarcoma
ATOH1 4q22.2 ATH1, HATH1, MATH-1, bHLHa14-Colorectal Cancer
-Medulloblastoma
BMPR1B 4q22.3 ALK6, AMDD, BDA2, ALK-6, BDA1D, CDw293-Breast Cancer
-Colorectal Cancer
-Ovarian Cancer
-Prostate Cancer
RAP1GDS1 4q23 GDS1, SmgGDSSomatic-Breast Cancer
-Leukaemia
-Lung Cancer
-Lung Cancer, Non-Small Cell
ADH1B 4q23 ADH2, HEL-S-117-Breast Cancer
-Colorectal Cancer
-Esophageal Cancer
-Head and Neck Cancers
-Liver Cancer
-Stomach Cancer
ADH1C 4q23 ADH3-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Esophageal Cancer
-Head and Neck Cancers
-Laryngeal Cancer
-Oral Cavity Cancer
-Stomach Cancer
EIF4E 4q23 CBP, EIF4F, AUTS19, EIF4E1, eIF-4E, EIF4EL1-Breast Cancer
-Lung Cancer
-Skin Cancer
TET2 4q24 MDS, KIAA1546Somatic-Acute Myeloid Leukaemia
-Acute Myeloid Leukaemia (AML) - childhood
-Chronic Myelogenous Leukemia
-Myelodysplastic Syndromes
-Myeloproliferative Disorders
NFKB1 4q24 p50, KBF1, p105, EBP-1, CVID12, NF-kB1, NFKB-p50, NFkappaB, NF-kappaB, NFKB-p105, NF-kappa-B-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Multiple Myeloma
CASP6 4q25 MCH2-Brain Stem Glioma, Childhood
-Breast Cancer
-Cervical Cancer
-Lung Cancer
-Stomach Cancer
PITX2 4q25 RS, RGS, ARP1, Brx1, IDG2, IGDS, IHG2, PTX2, RIEG, ASGD4, IGDS2, IRID2, Otlx2, RIEG1-Breast Cancer
-Cancer Screening
-Ovarian Cancer
-Prostate Cancer
-Thyroid Cancer
LEF1 4q25 LEF-1, TCF10, TCF7L3, TCF1ALPHA-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Chronic Lymphocytic Leukemia
-Colorectal Cancer
-Skin Cancer
ANXA5 4q27 PP4, ANX5, ENX2, RPRGL3, HEL-S-7-Bladder Cancer
-Breast Cancer
-Liver Cancer
-Lung Cancer
-Pancreatic Cancer
IL2 4q27 IL-2, TCGF, lymphokineSomatic-Breast Cancer
-Chronic Lymphocytic Leukemia
-Melanoma
-Ovarian Cancer
IL21 4q27 Za11, IL-21, CVID11-Breast Cancer
-Chronic Lymphocytic Leukemia
-Multiple Myeloma
-Ovarian Cancer
CCNA2 4q27 CCN1, CCNA-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Prostate Cancer
MAD2L1 4q27 MAD2, HSMAD2-Bladder Cancer
-Breast Cancer
-Lung Cancer
-Stomach Cancer
-Thyroid Cancer
FAT4 4q28.1 FATJ, FAT-J, CDHF14, CDHR11, HKLLS2, VMLDS2, NBLA00548
SPRY1 4q28.1 hSPRY1-Breast Cancer
-Liver Cancer
-Ovarian Cancer
-Prostate Cancer
FGF2 4q28.1 BFGF, FGFB, FGF-2, HBGF-2-Breast Cancer
-Cervical Cancer
-Melanoma
-Neuroblastoma
-Ovarian Cancer
-Prostate Cancer
-Uterine Sarcoma
PCDH10 4q28.3 PCDH19, OL-PCDH-Bladder Cancer
-Cervical Cancer
-Colorectal Cancer
-Leukaemia
-Multiple Myeloma
-Pancreatic Cancer
-Prostate Cancer
-Stomach Cancer
-Testicular Cancer
SMAD1 4q31.21 BSP1, JV41, BSP-1, JV4-1, MADH1, MADR1-Prostate Cancer
HHIP 4q31.21 HIP-Colorectal Cancer
-Esophageal Cancer
-Liver Cancer
-Lung Cancer
-Pancreatic Cancer
-Stomach Cancer
IL15 4q31.21 IL-15-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Lung Cancer
-Skin Cancer
GAB1 4q31.21 -Breast Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
NR3C2 4q31.23 MR, MCR, MLR, NR3C2VIT-Acute Lymphocytic Leukaemia (ALL)
-Adrenocortical Cancer
-Cervical Cancer
-Colorectal Cancer
-Lung Cancer
-Prostate Cancer
SFRP2 4q31.3 FRP-2, SARP1, SDF-5-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Stomach Cancer
TLR2 4q31.3 TIL4, CD282-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Prostate Cancer
-Stomach Cancer
FBXW7 4q31.3 AGO, CDC4, FBW6, FBW7, hAgo, FBX30, FBXW6, SEL10, hCdc4, FBXO30, SEL-10Somatic-Acute Lymphocytic Leukaemia (ALL)
-Acute Lymphocytic Leukemia (ALL), child
-Breast Cancer
-Cervical Cancer
-Chronic Lymphocytic Leukemia
-Colorectal Cancer
-Wilms Tumour
ADAM29 4q34.1 CT73, svph1Somatic-Chronic Lymphocytic Leukemia
-Colorectal Cancer
-Esophageal Cancer
HPGD 4q34.1 PGDH, PGDH1, PHOAR1, 15-PGDH, SDR36C1-Breast Cancer
-Colorectal Cancer
-Prostate Cancer
VEGFC 4q34.3 VRP, Flt4-L, LMPH1D-Bladder Cancer
-Breast Cancer
-Lung Cancer
-Neuroblastoma
-Prostate Cancer
-Stomach Cancer
TLR3 4q35.1 CD283, IIAE2-Bladder Cancer
-Breast Cancer
-Cervical Cancer
-Liver Cancer
-Melanoma
ING2 4q35.1 ING1L, p33ING2-Colorectal Cancer
-Liver Cancer
-Lung Cancer
-Skin Cancer
CASP3 4q35.1 CPP32, SCA-1, CPP32B-Bladder Cancer
-Lung Cancer
-Osteosarcoma
-Stomach Cancer
IRF2 4q35.1 IRF-2-Acute Myeloid Leukaemia
-Chronic Myelogenous Leukemia
-Esophageal Cancer
-Liver Cancer
DUX4L1 4q35.2 DUX4, DUX10Somatic-Ewing's Sarcoma
-Rhabdomyosarcoma
-Soft Tissue Sarcoma
FAT1 4q35.2 FAT, ME5, CDHF7, CDHR8, hFat1-Brain and CNS Tumours
-Colorectal Cancer
-Esophageal Cancer
-Head and Neck Cancers
-Oral Cavity Cancer

Structural Abnormalities

Selected list of common recurrent structural abnormalities - Chromosome 4:

Abnormality Type Gene(s)
FIP1L1-PDGFRA fusion in LeukemiaDeletion / TranslocationPDGFRA (4q12)FIP1L1 (4q12)
SLC34A2-ROS1 Fusion in NSCLCFusionSLC34A2 (4p15.2)ROS1 (6q22.1)
t(4;11)(q21;q23) in Infant LeukaemiaTranslocationAFF1 (4q21.3-q22.1)KMT2A (11q23.3)
t(4;11)(q21;q23) MLL-AFF1 in adult acute lymphoblastic leukemiaTranslocationAFF1 (4q21.3-q22.1)KMT2A (11q23.3)

This is a highly selective list aiming to capture structural abnormalies which are frequesnt and/or significant in relation to diagnosis, prognosis, and/or characterising specific cancers. For a much more extensive list see the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer.

Further Resources (3 links)

Disclaimer: This site is for educational purposes only; it can not be used in diagnosis or treatment.

Cite this page: Cotterill SJ. Chromosome 4, Cancer Genetics Web: http://www.cancer-genetics.org/clinkc04.htm Accessed:

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